Congenital Disorders of Glycosylation: A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.Glycosylation: The chemical or biochemical addition of carbohydrate or glycosyl groups to other chemicals, especially peptides or proteins. Glycosyl transferases are used in this biochemical reaction.Carbohydrate Metabolism, Inborn ErrorsPhosphotransferases (Phosphomutases): A group of enzymes that catalyze an intramolecular transfer of a phosphate group. It has been shown in some cases that the enzyme has a functional phosphate group, which can act as the donor. These were previously listed under PHOSPHOTRANSFERASES (EC 2.7.-). (From Enzyme Nomenclature, 1992) EC 5.4.2.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Mannosyltransferases: Enzymes that catalyze the transfer of mannose from a nucleoside diphosphate mannose to an acceptor molecule which is frequently another carbohydrate. The group includes EC 2.4.1.32, EC 2.4.1.48, EC 2.4.1.54, and EC 2.4.1.57.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Mannose-6-Phosphate Isomerase: An enzyme that catalyzes the reversible isomerization of D-mannose-6-phosphate to form D-fructose-6-phosphate, an important step in glycolysis. EC 5.3.1.8.Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.Muscle Hypertonia: Abnormal increase in skeletal or smooth muscle tone. Skeletal muscle hypertonicity may be associated with PYRAMIDAL TRACT lesions or BASAL GANGLIA DISEASES.PolysaccharidesTransferrin: An iron-binding beta1-globulin that is synthesized in the LIVER and secreted into the blood. It plays a central role in the transport of IRON throughout the circulation. A variety of transferrin isoforms exist in humans, including some that are considered markers for specific disease states.Protein Modification, Translational: Any of the enzymatically catalyzed modifications of the individual AMINO ACIDS of PROTEINS, and enzymatic cleavage or crosslinking of peptide chains that occur pre-translationally (on the amino acid component of AMINO ACYL TRNA), co-translationally (during the process of GENETIC TRANSLATION), or after translation is completed (POST-TRANSLATIONAL PROTEIN PROCESSING).Dolichol: Eicosamethyl octacontanonadecasen-1-o1. Polyprenol found in animal tissues that contains about 20 isoprene residues, the one carrying the alcohol group being saturated.Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Hirschsprung Disease: Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Abnormalities, MultipleOligosaccharides: Carbohydrates consisting of between two (DISACCHARIDES) and ten MONOSACCHARIDES connected by either an alpha- or beta-glycosidic link. They are found throughout nature in both the free and bound form.FucoseAmino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Isoelectric Focusing: Electrophoresis in which a pH gradient is established in a gel medium and proteins migrate until they reach the site (or focus) at which the pH is equal to their isoelectric point.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Exome: That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.Syndrome: A characteristic symptom complex.Mannose: A hexose or fermentable monosaccharide and isomer of glucose from manna, the ash Fraxinus ornus and related plants. (From Grant & Hackh's Chemical Dictionary, 5th ed & Random House Unabridged Dictionary, 2d ed)Leukocyte-Adhesion Deficiency Syndrome: Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection.Homozygote: An individual in which both alleles at a given locus are identical.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Glycoproteins: Conjugated protein-carbohydrate compounds including mucins, mucoid, and amyloid glycoproteins.Germ-Line Mutation: Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.Golgi Apparatus: A stack of flattened vesicles that functions in posttranslational processing and sorting of proteins, receiving them from the rough ENDOPLASMIC RETICULUM and directing them to secretory vesicles, LYSOSOMES, or the CELL MEMBRANE. The movement of proteins takes place by transfer vesicles that bud off from the rough endoplasmic reticulum or Golgi apparatus and fuse with the Golgi, lysosomes or cell membrane. (From Glick, Glossary of Biochemistry and Molecular Biology, 1990)Membrane Proteins: Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Carbohydrate Sequence: The sequence of carbohydrates within POLYSACCHARIDES; GLYCOPROTEINS; and GLYCOLIPIDS.Polymorphism, Single-Stranded Conformational: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Bipolar Disorder: A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.Infant, Newborn: An infant during the first month after birth.Glucosyltransferases: Enzymes that catalyze the transfer of glucose from a nucleoside diphosphate glucose to an acceptor molecule which is frequently another carbohydrate. EC 2.4.1.-.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Tunicamycin: An N-acetylglycosamine containing antiviral antibiotic obtained from Streptomyces lysosuperificus. It is also active against some bacteria and fungi, because it inhibits the glucosylation of proteins. Tunicamycin is used as tool in the study of microbial biosynthetic mechanisms.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization: A mass spectrometric technique that is used for the analysis of large biomolecules. Analyte molecules are embedded in an excess matrix of small organic molecules that show a high resonant absorption at the laser wavelength used. The matrix absorbs the laser energy, thus inducing a soft disintegration of the sample-matrix mixture into free (gas phase) matrix and analyte molecules and molecular ions. In general, only molecular ions of the analyte molecules are produced, and almost no fragmentation occurs. This makes the method well suited for molecular weight determinations and mixture analysis.Adaptor Proteins, Vesicular Transport: A class of proteins involved in the transport of molecules via TRANSPORT VESICLES. They perform functions such as binding to the cell membrane, capturing cargo molecules and promoting the assembly of CLATHRIN. The majority of adaptor proteins exist as multi-subunit complexes, however monomeric varieties have also been found.Caroli Disease: Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease.Congenital Abnormalities: Malformations of organs or body parts during development in utero.Fatal Outcome: Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.Endoplasmic Reticulum: A system of cisternae in the CYTOPLASM of many cells. In places the endoplasmic reticulum is continuous with the plasma membrane (CELL MEMBRANE) or outer membrane of the nuclear envelope. If the outer surfaces of the endoplasmic reticulum membranes are coated with ribosomes, the endoplasmic reticulum is said to be rough-surfaced (ENDOPLASMIC RETICULUM, ROUGH); otherwise it is said to be smooth-surfaced (ENDOPLASMIC RETICULUM, SMOOTH). (King & Stansfield, A Dictionary of Genetics, 4th ed)Mental Disorders: Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function.CHO Cells: CELL LINE derived from the ovary of the Chinese hamster, Cricetulus griseus (CRICETULUS). The species is a favorite for cytogenetic studies because of its small chromosome number. The cell line has provided model systems for the study of genetic alterations in cultured mammalian cells.Amino Acid Substitution: The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Anxiety Disorders: Persistent and disabling ANXIETY.Mood Disorders: Those disorders that have a disturbance in mood as their predominant feature.Mutagenesis, Site-Directed: Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.Asparagine: A non-essential amino acid that is involved in the metabolic control of cell functions in nerve and brain tissue. It is biosynthesized from ASPARTIC ACID and AMMONIA by asparagine synthetase. (From Concise Encyclopedia Biochemistry and Molecular Biology, 3rd ed)Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Protein Processing, Post-Translational: Any of various enzymatically catalyzed post-translational modifications of PEPTIDES or PROTEINS in the cell of origin. These modifications include carboxylation; HYDROXYLATION; ACETYLATION; PHOSPHORYLATION; METHYLATION; GLYCOSYLATION; ubiquitination; oxidation; proteolysis; and crosslinking and result in changes in molecular weight and electrophoretic motility.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Mutation Rate: The number of mutations that occur in a specific sequence, GENE, or GENOME over a specified period of time such as years, CELL DIVISIONS, or generations.Genes, p53: Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.Chromatography, High Pressure Liquid: Liquid chromatographic techniques which feature high inlet pressures, high sensitivity, and high speed.Protein Isoforms: Different forms of a protein that may be produced from different GENES, or from the same gene by ALTERNATIVE SPLICING.Codon, Nonsense: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Diagnostic and Statistical Manual of Mental Disorders: Categorical classification of MENTAL DISORDERS based on criteria sets with defining features. It is produced by the American Psychiatric Association. (DSM-IV, page xxii)DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase: An amidohydrolase that removes intact asparagine-linked oligosaccharide chains from glycoproteins. It requires the presence of more than two amino-acid residues in the substrate for activity. This enzyme was previously listed as EC 3.2.2.18.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Protein Structure, Tertiary: The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.Mutagenesis: Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.Glycopeptides: Proteins which contain carbohydrate groups attached covalently to the polypeptide chain. The protein moiety is the predominant group with the carbohydrate making up only a small percentage of the total weight.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Recombinant Proteins: Proteins prepared by recombinant DNA technology.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Models, Molecular: Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures.Binding Sites: The parts of a macromolecule that directly participate in its specific combination with another molecule.Cricetinae: A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.Codon: A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).Glycosyltransferases: Enzymes that catalyze the transfer of glycosyl groups to an acceptor. Most often another carbohydrate molecule acts as an acceptor, but inorganic phosphate can also act as an acceptor, such as in the case of PHOSPHORYLASES. Some of the enzymes in this group also catalyze hydrolysis, which can be regarded as transfer of a glycosyl group from the donor to water. Subclasses include the HEXOSYLTRANSFERASES; PENTOSYLTRANSFERASES; SIALYLTRANSFERASES; and those transferring other glycosyl groups. EC 2.4.Transfection: The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Depressive Disorder, Major: Marked depression appearing in the involution period and characterized by hallucinations, delusions, paranoia, and agitation.Protein Binding: The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Attention Deficit Disorder with Hyperactivity: A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-V)Consanguinity: The magnitude of INBREEDING in humans.DNA, Neoplasm: DNA present in neoplastic tissue.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Age of Onset: The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.N-Acetylglucosaminyltransferases: Enzymes that catalyze the transfer of N-acetylglucosamine from a nucleoside diphosphate N-acetylglucosamine to an acceptor molecule which is frequently another carbohydrate. EC 2.4.1.-.Family Health: The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Depressive Disorder: An affective disorder manifested by either a dysphoric mood or loss of interest or pleasure in usual activities. The mood disturbance is prominent and relatively persistent.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Glycoside HydrolasesDNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.Autistic Disorder: A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-V)Carbohydrate Conformation: The characteristic 3-dimensional shape of a carbohydrate.Escherichia coli: A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.Glycomics: The systematic study of the structure and function of the complete set of glycans (the glycome) produced in a single organism and identification of all the genes that encode glycoproteins.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Genetic Complementation Test: A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.Protein Conformation: The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain).Obsessive-Compulsive Disorder: An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Kinetics: The rate dynamics in chemical or physical systems.Saccharomyces cerevisiae: A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.

*ALG12

Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal ... 2004). "Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig". Pediatr. Res. 54 (2 ... GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview Human ALG12 genome location and ALG12 gene ... Jaeken J, Carchon H (2004). "Congenital disorders of glycosylation: a booming chapter of pediatrics". Curr. Opin. Pediatr. 16 ( ...

*Congenital disorder of glycosylation

"A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)". The Journal of Clinical ... Most common severe types include: The specific problems produced differ according to the particular abnormal synthesis involved ... Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. (2004) Nat. Med. 10, 518-23. Kornak U, ... causes a novel congenital disorder of Glycosylation Type Ij". Human Mutation. 22 (2): 144-50. doi:10.1002/humu.10239. PMID ...

*PGM3 deficiency

... as they resemble features of other congenital disorder of glycosylation (CDGs). Because glycosylation is known to be critical ... PGM3 deficiency is caused by a hypomorphic mutation in gene PGM3 (OMIM#172100). PGM3 is a 29 kb gene with 14 exons, mapping to ... When both parents have one abnormal copy of the PGM3 gene, each child has a 25 percent chance of being affected by the disease ... Mutations in the sugar-binding domain leads to reduced PGM3 abundance and impairs PGM3 function and glycosylation to a higher ...

*Hyperimmunoglobulin E syndrome

PGM3, a Congenital Disorder of Glycosylation, may present as HIES with neurocognitive impairment and hypomyelination. See PGM3 ... The disease was linked to mutations in the STAT3 gene after cytokine profiles indicated alterations in the STAT3 pathway. ... Abnormal neutrophil chemotaxis due to decreased production of interferon gamma by T lymphocytes is thought to cause the disease ... November 2009). "Combined immunodeficiency associated with DOCK8 mutations". N. Engl. J. Med. 361 (21): 2046-55. doi:10.1056/ ...

*Hereditary multiple exostoses

Since the HME genes are involved in the synthesis of a glycan (heparan sulfate), HME may be considered a congenital disorder of ... Symptoms are more likely to be severe if the mutation is on the ext1 gene rather than ext2 or ext3; ext1 is also the most ... It is thought that normal chondrocyte proliferation and differentiation may be affected, leading to abnormal bone growth. ... glycosylation according to the new CDG nomenclature suggested in 2009. For individuals with HME who are considering starting a ...

*CEP290

A defective CEP290 gene is usually the cause of these disorders due to abnormal cilia. It is unknown how one mutation in a gene ... A mutation in this gene leads to infant and child blindness, a disease known as Leber Congenital Amaurosis. As of today, 35 ... The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N- ... 2006). "Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis". Am. J. Hum. Genet. 79 (3): ...

*Congenital dyserythropoietic anemia type II

CDA type II is caused by mutations in the SEC23B gene. This gene provides instructions for making a protein that is involved in ... This form of the disorder is usually diagnosed in adolescence or early adulthood. An abnormal buildup of iron typically occurs ... An aberrant glycosylation pattern is seen in the polylactosamine carbohydrates which are normally attached to the band 3 and ... Researchers are working to determine how mutations in the SEC23B gene lead to the signs and symptoms of CDA type II. Analyses ...

*Ocular albinism type 1

... or mutations of either the Tyr gene or P transporter. Human Oa1 gene product was initially identified as a 60kDa protein formed ... The term albinism [L. albus means 'white'] refers to a heterogeneous group of congenital disorders in melanin pigment ... Mutations in OA1 have been linked to defective glycosylation and thus improper intracellular transportation. The eponyms of the ... Pigmentation process maybe affected in one or many ways due to mutations. Abnormal pigmentation maybe at the level of ...

*Micropolygyria

December 2001). "Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with ... secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan". Am. J. Hum. Genet. 69 (6): 1198-209. doi ... Micropolygyria, also known as polymicrogyria, polygyria, or microgyria, is a neuronal migration disorder, a developmental ... November 2006). "Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness". Ann. Neurol. 60 (5): 597- ...

*Seipin

... and mutations in an N-glycosylation motif links seipin to two other disorders, i.e. Silver syndrome and autosomal-dominant ... "Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13". Nature Genetics. 28 (4 ... "Seipin mutation at glycosylation sites activates autophagy in transfected cells via abnormal large lipid droplets generation". ... "Seipin mutation at glycosylation sites activates autophagy in transfected cells via abnormal large lipid droplets generation". ...

*Congenital muscular dystrophy

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io; CDG1O". www.omim.org. Retrieved 2016-04-26. "OMIM Entry - # 615042 - CONGENITAL ... The genetics of congenital muscular dystrophy are autosomal recessive which means two copies of an abnormal gene must be ... MDCIA, for example is due to a mutation in the LAMA-2 gene and is involved with the 6q2 chromosome. In terms of the mechanism ... "OMIM Entry - # 608799 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E". www.omim.org. Retrieved 2016-04-26. "OMIM Entry ...

*Dysfibrinogenemia

Congenital dysfibrinogenemia is an inherited disorder in which one of the parental genes produces an abnormal fibrinogen. This ... the presence of FGA gene mutations, and the occurrence of these mutations in family members. The disorder exhibits a highly ... and sialic acid are added by respective glycosylation and sialylation enzyme pathways thereby converting the heximer to a ... insert mutation, or splice site mutation in one of these genes. The most frequent sites for these mutations code for the N- ...

*Bilateral frontoparietal polymicrogyria

... and GPR56 gene mutations, Epilepsia, Volume 50 Issue 6, Pages 1344-1353, 2009. Guerrini, R., W. Dobyns, and A. Barkovich. " ... muscle-eye-brain disease and Fukuyama congenital muscular dystrophy) that are also associated with N-glycosylation defects in ... of cerebral cortical development due to abnormal neuronal migration and positioning usually lead to cortical disorders, which ... fused gyri separated by shallow sulci and abnormal cortical lamination. From ongoing research, mutation in GPR56, a member of ...

*Hemoglobin

Mutations in the genes for the hemoglobin protein in a species result in hemoglobin variants. Many of these mutant forms of ... In individuals with abnormal RBCs, whether due to abnormal hemoglobin molecules (such as Hemoglobin S in Sickle Cell Anemia) or ... There is a group of genetic disorders, known as the porphyrias that are characterized by errors in metabolic pathways of heme ... This elevation may be caused by congenital heart disease, cor pulmonale, pulmonary fibrosis, too much erythropoietin, or ...

*Reelin

One genome-wide association study indicates a possible role for RELN gene variation in otosclerosis, an abnormal growth of bone ... Autism is a neurodevelopmental disorder that is generally believed to be caused by mutations in several locations, likely ... Seizures and congenital lymphedema are also present. A novel chromosomal translocation causing the syndrome was described in ... According to one study, reelin expression and glycosylation patterns are altered in Alzheimer's disease. In the cortex of the ...

*B4GALT7

... the resulting subtype of Ehlers-Danlos syndrome may be considered a congenital disorder of glycosylation (CDG), according to ... Mutations in the B4GALT7 gene that result in a defective galactosyltransferase I enzyme with reduced or absent activity are ... 2007). "Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin ... Identification and characterization of two mutations in galactosyltransferase I gene". J. Biol. Chem. 274 (41): 28841-4. doi: ...

*Optic nerve hypoplasia

Mutations of genes involved in transcription regulation, chromatin remodelling, α-dystroglycan glycosylation, cytoskeleton and ... Dutton, G N (1 November 2004). "Congenital disorders of the optic nerve: excavations and hypoplasia". Eye. 18 (11): 1038-1048. ... Disturbance of circadian sleep rhythm, resulting in abnormal sleep-wake cycles, is noted in one-third of children with ONH. ... Optic nerve hypoplasia (ONH) is a congenital condition in which the optic nerve is underdeveloped (small). Many times, de ...

*Hemoglobin

Mutations in the genes for the hemoglobin protein in a species result in hemoglobin variants.[25][26] Many of these mutant ... In individuals with abnormal RBCs, whether due to abnormal hemoglobin molecules (such as Hemoglobin S in Sickle Cell Anemia) or ... There is a group of genetic disorders, known as the porphyrias that are characterized by errors in metabolic pathways of heme ... This elevation may be caused by congenital heart disease, cor pulmonale, pulmonary fibrosis, too much erythropoietin, or ...

*Minigene

... oncologists have proposed tests designed to detect products of abnormal gene expression for diagnostic purposes. Additionally, ... IGHD type II is an autosomal dominant form caused by a mutation in the intervening sequence (IVS) adjacent to exon 3 of the ... These effects on hormones have been identified as the cause of many endocrine disorders including thyroid-related pathological ... "Glycosylation of Glycolipids in Cancer: Basis for Development of Novel Therapeutic Approaches". Front Oncol. 3: 306. doi: ...

*Hemoglobin

Mutations in the genes for the hemoglobin protein in a species result in hemoglobin variants.[26][27] Many of these mutant ... In individuals with abnormal RBCs, whether due to abnormal hemoglobin molecules (such as Hemoglobin S in Sickle Cell Anemia) or ... There is a group of genetic disorders, known as the porphyrias that are characterized by errors in metabolic pathways of heme ... This elevation may be caused by congenital heart disease, cor pulmonale, pulmonary fibrosis, too much erythropoietin, or ...

*List of diseases (C)

Congenital cytomegalovirus Congenital deafness Congenital diaphragmatic hernia Congenital disorder of glycosylation Congenital ... familial dilated Cardiomyopathy due to anthracyclines Cardiomyopathy hearing loss type t RNA lysine gene mutation Hypertrophic ... tibia Cleft lip and palate malrotation cardiopathy Cleft lip and/or palate with mucous cysts of lower Cleft lip palate abnormal ... jaundice Congenital rubella Congenital short bowel Congenital short femur Congenital skeletal disorder Congenital skin disorder ...
TY - JOUR. T1 - Nutritional therapies in congenital disorders of glycosylation (CDG). AU - Witters, Peter. AU - Cassiman, David. AU - Morava-Kozicz, Eva. PY - 2017/11/1. Y1 - 2017/11/1. N2 - Congenital disorders of glycosylation (CDG) are a group of more than 130 inborn errors of metabolism affecting N-linked, O-linked protein and lipid-linked glycosylation. The phenotype in CDG patients includes frequent liver involvement, especially the disorders belonging to the N-linked protein glycosylation group. There are only a few treatable CDG. Mannose-Phosphate Isomerase (MPI)-CDG was the first treatable CDG by high dose mannose supplements. Recently, with the successful use of D-galactose in Phosphoglucomutase 1 (PGM1)-CDG, other CDG types have been trialed on galactose and with an increasing number of potential nutritional therapies. Current mini review focuses ...
A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems (especially the nervous system, muscles, and intestines) in affected infants. The most common subtype is CDG-Ia (also referred to as PMM2-CDG) where the genetic defect leads to the loss of phosphomannomutase 2, the enzyme responsible for the conversion of mannose-6-phosphate into mannose-1-phosphate. Historically, CDGs are classified as Types I and II (CDG-I and CDG-II), depending on the nature and location of the biochemical defect in the metabolic pathway relative to the action of ...
... (CDG 2A) is a part of a group of rare inherited conditions that are present at birth (congenital) and involve defects in the glycosylation process. Glycosylation involves the joining of sugars and proteins (to form glycoproteins) by enzymes (proteins that function to convert specific substances in the body) in the cells of our bodies. These sugars (glycans) must be properly attached to specific proteins in the cells in order for the cells to function correctly. Due to the many functions of these glycoproteins throughout the body, if an error occurs in one of the many steps of the process, a wide variety of health problems may occur beginning in infancy. Symptoms can include psychomotor delays (movement, coordination, dexterity), mental retardation, and distinct physical features including thin lips, large gums, low-set rotated ears, and small head circumference. Some affected individuals may have gastrointestinal problems like diarrhea and reflux. ...
In this study, we examined the potential N-glycosylation sites of RCL, and then discussed the functional significance of N-glycosylation on its secretion and enzymatic properties. RCL has four potential glycosylation sites in its gene sequence, three of which lie in the prosequence and the fourth of which is in the mature sequence (Figure 1B). Although the potential N-glycosylation sites of a protein can be predicted from the consensus sequence Asn-Xaa-Ser/Thr, not all such sites are fully occupied [33]. When RCL was expressed in P. pastoris, its N-terminal was truncated by Kex2. Thus, the three potential glycosylation sites in its prosequence were removed and only one glycosylation site at N-263 was retained in the truncated lipase r27RCLC (Figure 1). Enzymatic deglycosylation, which removed both high-mannose, hybrid-and complex-type N-linked glycans, was performed using ...
Genetics Home Reference : 25 PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2-CDG vary widely among affected individuals, sometimes even among members of the same family ...
Abstract. Many West Nile (WN) virus isolates associated with significant outbreaks possess a glycosylation site on the envelope (E) protein. E-protein glycosylated variants of New York (NY) strains of WN virus are more neuroinvasive in mice than the non-glycosylated variants. To determine how E protein glycosylation affects the interactions between WN virus and avian hosts, we inoculated young chicks with NY strains of WN virus containing either glycosylated or non-glycosylated variants of the E protein. The glycosylated variants were more virulent and had higher viremic levels than the non-glycosylated variants. The glycosylation status of the variant did not affect viral multiplication and dissemination in mosquitoes in vivo. Glycosylated variants showed more heat-stable propagation than non-glycosylated variants in mammalian (BHK) and avian (QT6) cells but not in mosquito (C6/36) cells. Thus, E-protein glycosylation may be a requirement ...
Contact us today to find out how SGSs world-class Glycosylation Analysis can help determine how post-translational factors have affected glycan structure, linkage or composition.
Genetics Home Reference : 25 ALG12-congenital disorder of glycosylation (ALG12-CDG, also known as congenital disorder of glycosylation type Ig) is an inherited disorder with varying signs and symptoms that can affect several body systems. Individuals with ALG12-CDG typically develop signs and symptoms of the condition during infancy. They may have problems feeding and difficulty growing and gaining weight at the expected rate (failure to thrive). In addition, affected individuals often have intellectual disability, delayed development, and weak muscle tone (hypotonia), and some develop seizures ...
Centralized Modularity of N-Linked Glycosylation Pathways in Mammalian Cells. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
Congenital disorder of glycosylation type IIc or Leukocyte adhesion deficiency-2 (LAD2) is a type of leukocyte adhesion deficiency attributable to the absence of neutrophil sialyl-LewisX, a ligand of P- and E-selectin on vascular endothelium. It is associated with SLC35C1. This disorder was discovered in two unrelated Israeli boys 3 and 5 years of age, each the offspring of consanguineous parents. Both had severe mental retardation, short stature, a distinctive facial appearance, and the Bombay (hh) blood phenotype, and both were secretor- and Lewis-negative. They both had had recurrent severe bacterial infections similar to those seen in patients with LAD1, including pneumonia, peridontitis, otitis media, and localized cellulitis. Similar to that in patients with LAD1, their infections were accompanied by pronounced leukocytosis (30,000 to 150,000/mm3) but an absence of pus formation at sites of recurrent cellulitis. In vitro studies revealed a pronounced defect in ...
Congenital disorder of glycosylation type 1/IIX information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Deficiency of the enzyme phosphomannomutase 2 (PMM2) caused by loss-of-function mutations in the human PMM2 gene was shown over two decades ago to be the basis of a recessive congenital disorder of glycosylation originally called CDG1 or CDG1a. The first clinical observation by Jaeken and colleagues of a carbohydrate-deficient glycoprotein syndrome occurred four decades ago (Jaeken et al., 1980). The researcher and patient communities now refer to the disease as PMM2-CDG, which is the most common congenital disorder of glycosylation and affects at least 1000 patients worldwide (Chang et al., 2018). Classical pediatric clinical presentations include developmental delay, severe encephalopathy with axial hypotonia, abnormal eye movements, psychomotor retardation and cerebellar hypoplasia (Matthijs et al., 1997). As patients reach their teenage years and young adulthood, health challenges ...
Patients with Congenital Disorders of Glycosylation (CDG) have recessive mutations in genes required for protein N-glycosylation, resulting in multi-systemic disease. Despite the well-characterized biochemical consequences in these patients, the underlying cellular defects that contribute to CDG are not well-understood. Synthesis of the lipid-linked oligosaccharide (LLO), which serves as the sugar donor for the N-glycosylation of secretory proteins, requires conversion of fructose-6-phosphate to mannose-6-phosphate via the phosphomannose isomerase (MPI) enzyme. Patients deficient in MPI present with bleeding, diarrhea, edema, gastrointestinal bleeding, and liver fibrosis. MPI-CDG patients can be treated with oral mannose supplements, which is converted to mannose-6-phosphate through a minor complementary metabolic pathway, restoring protein glycosylation and ameliorating ...
Looking for online definition of protein glycosylation in the Medical Dictionary? protein glycosylation explanation free. What is protein glycosylation? Meaning of protein glycosylation medical term. What does protein glycosylation mean?
In the field of biochemistry, O-linked glycosylation is the attachment of a sugar molecule to an oxygen atom in an amino acid residue in a protein. O-linked glycosylation is a form of glycosylation that occurs in the Golgi apparatus in eukaryotes. It also occurs in archaea and bacteria. O-linked glycosylation occurs at a later stage during protein processing, probably in the Golgi apparatus. This is the addition of N-acetyl-galactosamine to serine or threonine residues by the enzyme UDP-N-acetyl-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (EC number 2.4.1.41), followed by other carbohydrates (such as galactose and sialic acid). This process is important for certain types of proteins such as proteoglycans, which involves the addition of glycosaminoglycan chains to an initially unglycosylated "proteoglycan core protein." These additions are usually serine O-linked glycoproteins, which seem to have one of two main functions. ...
N-linked glycosylation has a profound effect on the proper folding, oligomerization and stability of glycoproteins. These glycans impart many properties to proteins that may be important for their proper functioning, besides having a tendency to exert a chaperone-like effect on them. Certain glycosylation sites in a protein however, are more important than other sites for their function and stability. It has been observed that some N-glycosylation sites are conserved over families of glycoproteins over evolution, one such being the tyrosinase related protein family. The role of these conserved N-glycosylation sites in their trafficking, sorting, stability and activity has been examined here. By scrutinizing the different glycosylation sites on this family of glycoproteins it was inferred that different sites in the same family of polypeptides can perform distinct functions and conserved sites across the paralogues may ...
Advanced Glycosylation End Products: Products derived from the nonenzymatic reaction of glucose and proteins in vivo that exhibit a yellow-brown pigmentation and an ability to participate in protein-protein cross-linking. These substances are involved in biological processes relating to protein turnover and it is believed that their excessive accumulation contributes to the chronic complications of diabetes mellitus.
A majority of all biologically active proteins are glycosylated and various diseases have proven to correlate with alterations in protein glycosylation. Sensitive identification of different glycoprotein glycoforms is therefore of great diagnostic value. Here we describe a method with potential for glycoprotein profiling, based on lectins as capture probes immobilized on particulate substrates in the nm-range. The nanoparticles present high concentrations of attachment sites for specific ligands and cause minimal steric hindrance to binding. In the present model study the mannose-binding lectin ConA has been coupled to polystyrene nanoparticles via a poly(ethyleneoxide) linker which protects the protein conformation and activity and prevents unspecific protein adsorption. The ConA-coated particles are accommodated at different spots on the analytical surface via oligonucleotide linkage. This attachment, which relies on the hybridization of complementary oligonucleotides, allows firm fixation ...
Highlights: •Down-regulating FUT9 and ST3Gal4 expression blocks L1-induced neuronal differentiation of ESCs. •Up-regulating FUT9 and ST3Gal4 expression in L1-ESCs depends on the activation of PLCγ. •L1 promotes ESCs to differentiate into neuron through regulating cell surface glycosylation. -- Abstract: Cell recognition molecule L1 (CD171) plays an important role in neuronal survival, migration, differentiation, neurite outgrowth, myelination, synaptic plasticity and regeneration after injury. Our previous study has demonstrated that overexpressing L1 enhances cell survival and proliferation of mouse embryonic stem cells (ESCs) through promoting the expression of FUT9 and ST3Gal4, which upregulates cell surface sialylation and fucosylation. In the present study, we examined whether sialylation and fucosylation are involved in ESC differentiation through L1 signaling. RNA interference analysis showed that L1 enhanced differentiation of ESCs into neurons through the ...
Allen JP, Litten RZ, Anton RF, Cross GM: Carbohydrate-deficient transferrin as a measure of immoderate drinking: Remaining issues. Alcohol Clin Exp Res 18,799-812 (1994). Anton RF, Moak DH: Carbohydrate-deficient transferrin and -glutamyltransferase as markers of heavy alcohol consumption. Alcohol Clin Exp Res 18/3,747-754 (1994). Anton R, Bean P: Two methods for measuring carbohydrate-deficient transferrin in inpatient alcoholics and healthy controls compared. Clin Chem 40/3,364-368 (1994). Arndt T, Gressner AM, Kropf J: Labordiagnostik und Kontrolle des Alkoholabusus. Med Welt 45,247-257 (1994). Behrens U, Worner TM, Braly LF et al: Carbohydrate-deficient Transferrin, a Marker for Chronic Alcohol Consumption in Different Ethnic Populations. Alcohol Clin Exp Res 12,427-432 (1988). Behrens UJ, Worner TM, Lieber CS: Changes in Carbohydrate-Deficient Transferrin levels after alcohol withdrawal. Alcohol Clin Exp Res 12,539-542 (1988). Bell H, Tallaksen C, Sjahem T, Weberg R et al: Serum ...
Shanti, B., Silink, M., Bhattacharya, K., Howard, N., Carpenter, K., Fietz, M., Clayton, P., Christodoulou, J. (2009). Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency. Journal of Inherited Metabolic Disease, Short Report #166 - online, 1-11. [More Information] ...
The N-linked glycosylation in recombinant monoclonal antibodies (mAb) occurs at Asn297 on the Fc region in the CH2 domain. Glycosylation heterogeneities have been well documented to affect biological activities such as antibody-dependent cellular cytotoxicity (ADCC) and complement-dependent cytotoxicity (CDC) through their interaction with Fc-receptors. Hence, it is critical to monitor and characterize the N-linked glycosylation profile in a therapeutic protein such as a mAb for product consistency. In one approach, the glycans are first released from the mAb using an enzyme specific digestion, such as Protein N-Glycosidase F (PNGase) and subsequently they are labeled using a fluorophore, for example, 8-aminopyrene-1,3,6-trisulfonic acid (APTS) . Here we have applied this approach and used Capillary Electrophoresis with Laser-Induced Fluorescence detection (CE-LIF) to analyze a recombinant mAb produced in murine myeloma (NS0) cells. The ...
HIV-1 envelope glycoprotein (Env) is the sole target for broadly neutralizing antibodies (bnAbs) and the focus for design of an antibody-based HIV vaccine. The Env trimer is covered by ∼90N-linked glycans, which shield the underlying protein from immune surveillance. bNAbs to HIV develop during infection, with many showing dependence on glycans for binding to Env. The ability to routinely assess the glycan type at each glycosylation site may facilitate design of improved vaccine candidates. Here we present a general mass spectrometry-based proteomics strategy that uses specific endoglycosidases to introduce mass signatures that distinguish peptide glycosites that are unoccupied or occupied by high-mannose/hybrid or complex-type glycans. The method yields ,95% sequence coverage for Env, provides semi-quantitative analysis of the glycosylation status at each glycosite. We find that most glycosites in recombinant Env trimers are fully occupied by glycans, ...
All volunteers are encouraged to share the following tweets or Facebook posts on their personal accounts. By sharing messages like these on social media, you will help in bringing more awareness for World Congenital Disorders of Glycosylation (CDG) Awareness Day. Please accompany your posts with the CDG International Awareness Symbol. ...
Protein instability remains the main factor limiting the development of protein therapeutics. The fragile nature (structurally and chemically) of proteins makes them susceptible to detrimental events during processing, storage, and delivery. To overcome this, proteins are often formulated in the solid-state which combines superior stability properties with reduced operational costs. Nevertheless, solid protein pharmaceuticals can also suffer from instability problems due to moisture sorption. Chemical protein glycosylation has evolved into an important tool to overcome several instability issues associated with proteins. Herein, we employed chemical glycosylation to stabilize a solid-state protein formulation against moisture-induced deterioration in the lyophilized state. First, we investigated the consequences of moisture sorption on the stability and structural conformation of the model enzyme α-chymotrypsin (α-CT) under controlled humidity conditions. Results showed that ...
We investigated the metabolic defect(s) of four children who presented with isolated cryptogenic chronic liver disease, coagulopathy, and abnormalities of several unrelated serum glycoproteins. Analysis of the patients serum glycoproteins and fibroblasts suggest they have a novel congenital disorder of glycosylation (CDG). All had abnormal transferrin (Tf) isoelectric focusing (IEF) profiles. More detailed analysis of Tf by electrospray ionization mass spectrometry (ESI-MS) showed a plethora of abnormal glycosylations that included loss of 1-2 sialic acids and 1-2 galactose units, typical of Group II defects. Tf from two patients also lacked 1-2 entire oligosaccharide chains, typical of Group One disorders. Total serum N-glycans were analyzed by HPLC and matrix-assisted laser desorption/ionization mass spectrometry and also showed increased proportion of neutral glycan chains lacking sialic ...
Glycosylation, or the attachment of glycans (sugars) to proteins, is the most abundant post-translational modification in nature and plays a pivotal role in protein folding and activity. Glycans are involved in almost every human disease and biological process. Glycosylation is also important in biotechnology; about 70% of protein therapeutics approved or in development are glycosylated. By merging bottom-up engineering design principles with innovative molecular biology methodologies in a cell-free environment, we seek to create a simplified framework for studying and engineering glycosylation. Our envisioned platform will broaden the glycoengineering toolkit, facilitate discovery of the structural and functional consequences of glycan attachment, and enable a new era of applications in glycoprotein therapeutics and conjugate vaccines.. ...
Flavocytochrome b558 of the NADPH oxidase which generates superoxide in phagocytic cells, is a α1β1 heterodimer of gp91phox and p22phox, which together form a membrane-spanning electron-transport chain that transfers electrons from NADPH in the cytosol to oxygen. The C-terminal portion of gp91phox is a member of the ferredoxin-NADP+ reductase family of reductases. Little is known of the organization of the N-terminal section of this molecule, which is associated with the two haem structures. It is N-glycosylated, and site-directed mutagenesis has been used to eliminate the five potential N-linked glycosylation consensus sites. Mutated cDNAs were expressed in vitro. This approach provided evidence for glycosylation of residues Asn131, Asn148 and Asn239, but not of Asn96 and Asn429.. ...
Site-directed mutagenesis has been used to remove 15 of the 18 potential N-linked glycosylation sites, in 16 combinations, from the human exon 11-minus receptor isoform. The three glycosylation sites not mutated were asparagine residues 25, 397 and 894, which are known to be important in receptor biosynthesis or function. The effects of these mutations on proreceptor processing into α and β subunits, cell-surface expression, insulin binding and receptor autophosphorylation were assessed in Chinese hamster ovary cells. The double mutants 16+78, 16+111, 16+215, 16+255, 337+418, the triple mutants 295+337+418, 295+418+514, 337+418+514 and 730+743+881 and the quadruple mutants 606+730+743+881 and 671+730+743+881 seemed normal by all criteria examined. The triple mutant 16+215+255 showed only low levels of correctly processed receptor on the cell surface, this processed receptor being autophosphorylated in response to insulin. The quadruple ...
Kathrin Stavenhagen: Glycopeptide analysis remains challenging because of its sample heterogeneity resulting from the degree of glycosylation site occupancy (macroheterogeneity) and the different glycoforms attached to individual glycosylation sites (microheterogeneity).. With respect to the latter one, qualitative site-specific glycosylation information of glycoproteins can be obtained by unspecific protease treatment resulting in small amino acid stretches carrying the glycan. This improves determination of the glycosylation sites. However, detecting these glycopeptides by 1D-LC-ESI-MS/MS is challenging due to insufficient or irreversible retention on the stationary phase and thus multiple analyses with different LC-setups are required. Since biological sample amounts are usually limited, methods for acquiring comprehensive information in a single run are necessary.. To obtain qualitative ...
Leukocyte adhesion deficiency/congenital disorder of glycosylation IIc (LAD II/CDG IIc) is a genetic disease characterized by a decreased expression of fucose in glycoconjugates, resulting in leukocyte adhesion deficiency and severe morphological and neurological abnormalities. The biochemical defect is a reduced transport of guanosine diphosphate-L-fucose (GDP-L-fucose) from cytosol into the Golgi compartment, which reduces its availability as substrate for fucosyltransferases. The aim of this study was to determine the effects of a limited supply of GDP-L-fucose inside the Golgi on core fucosylation (a1,6-fucose linked to core N-acetylglucosamine [GlcNAc]) of N-linked glycans in LAD II fibroblasts. The results showed that, although [3H]fucose incorporation was generally reduced in LAD II cells, core fucosylation was affected to a greater extent compared with other types of fucosylation of N-linked oligosaccharides. In ...
Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations ...
Diagnosis and conservative treatment of congenital disorders of endocrine system (costs for program #50449) ✔ Alfried Krupp Hospital in Essen-Steele ✔ Department of Internal Medicine III ✔ BookingHealth.com
Diagnosis of congenital disorders of endocrine system (costs for program #30037) ✔ Academic Hospital Hildesheim ✔ Department of Gastroenterology, Oncology, Palliative Medicine, Rheumatology, Infectiology and Endocrinology ✔ BookingHealth.com
books.google.comhttps://books.google.com/books/about/Alpha_fetoprotein_and_Congenital_Disorde.html?id=V7hsAAAAMAAJ&utm_source=gb-gplus-shareAlpha-fetoprotein and Congenital Disorders ...
Copyright © 2008 Saunders, An Imprint of Elsevier C CABG (see Coronary artery bypass graft ) Cachexia (see Kwashiorkor or Marasmus ) Calculi (see Renal calculi or Biliary calculi ) Cancer (See Brain tumors , Breast cancer , Cervical cancer , Colon cancer , Endocrine tumors , Esophageal cancer , Ganglioneuroblastoma , Gastric cancer , Glucagonoma , Head and neck cancer , Hepatomas , Insulinoma , Leukemia , Liver cancer , Lung cancer , Lymphoma , Melanoma , Metastasis , Multiple myeloma , Neuroblastoma , Ovarian cancer , Pancreatic cancer , Pheochromocytoma , Prostate cancer , Renal cell cancer , Sarcoma , Testicular cancer , Thyroid cancer , Uterine cancer , Vaginal cancer , or Wilms tumor ) Candidiasis (see Thrush , Vaginitis ) Cannabis Drug Abuse (see Drug abuse ) Carbohydrate-Deficient Glycoprotein S yndrome • Transferrin, Carbohydrate-deficient, Serum Carbon Monoxide Poisoning Bicarbonate, Blood • Blood gases, Arterial, Blood (Oxygen saturation) • Carbon monoxide, Blood ...
From UniProt:. Congenital disorder of glycosylation 1H (CDG1H): A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. [MIM:608104]. ...
PEROXISOMES are single-membrane-bound organelles that house essential metabolic pathways in plants and other eukaryotes. For example, peroxisome biogenesis defects underlie the Zellweger spectrum of human congenital disorders, which often are fatal in infancy (reviewed in Wanders and Waterham 2005). Similarly, peroxisomes are essential for plant embryogenesis and development following germination (reviewed in Hu et al. 2012). The essential role of plant peroxisomes likely reflects the importance of peroxisomal enzymes, which catalyze key steps in photorespiration, fatty acid β-oxidation, jasmonate production, and conversion of the protoauxin indole-3-butyric acid (IBA) to the active auxin indole-3-acetic acid (IAA) (reviewed in Hu et al. 2012).. Peroxisomes import matrix proteins from the cytosol with the assistance of peroxin (PEX) proteins. Most matrix proteins are directed to the peroxisome by a C-terminal peroxisome-targeting signal 1 ...
Course weekly schedule / Community genetics - Course files. Training Course in Sexual and Reproductive Health Research 2017. Community genetics. Module coordinator: Hanan Hamamy. The aim of the module is to educate health care providers in developing countries on feasible public health approaches addressing community care and prevention of congenital disorders. The module presents the basic principles and application of genetic counselling at the primary health care level with emphasis on the importance of informed reproductive choices. The goal of community genetic services is to reduce the burden of congenital disorders on individuals, families and the community. The module would also include basic knowledge on research methodologies to highlight the importance of collecting and analysing data that establishes a baseline situation analysis of the frequencies and types of ...
Autosomal recessive cutis laxa is a genetically heterogeneous condition. Its molecular basis is largely unknown. Recently, a combined disorder of N- and O-linked glycosylation was described in children with congenital cutis laxa in association with severe central nervous system involvement, brain migration defects, seizures and hearing loss. We report on seven additional patients with similar clinical features in combination with congenital disorder of glycosylation type IIx. On the basis of phenotype in 10 patients, we define an autosomal recessive cutis laxa syndrome. The patients have a complex phenotype of neonatal cutis laxa, transient feeding intolerance, late closure of the fontanel, characteristic facial features including down-slanting palpebral fissures, short nose and small mouth, and developmental delay. There is a variable degree of the central nervous system involvement and variable systemic ...
TY - JOUR. T1 - Erratum to. T2 - Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG). AU - de Diego, Víctor. AU - Martínez-Monseny, Antonio F.. AU - Muchart, Jordi. AU - Cuadras, Daniel. AU - Montero, Raquel. AU - Artuch, Rafael. AU - Pérez-Cerdá, Celia. AU - Pérez, Belén. AU - Pérez-Dueñas, Belén. AU - Poretti, Andrea. AU - Serrano, Mercedes. AU - Aguilera-Albesa, Sergio. AU - Cancho Candela, Ramón. AU - Carrasco Marina, Ma Llanos. AU - Carratalá, Francisco. AU - Couce, Ma Luz. AU - Felipe, Ana. AU - García, Óscar. AU - García-Silva, Ma Teresa. AU - Gutiérrez-Solana, Luis G.. AU - Macaya, Alfons. AU - Miranda, Ma Concepción. AU - López, Laura. AU - López-Laso, Eduardo. AU - Póo, M. Pilar. AU - Quijada-Fraile, Pilar. AU - Robles, Bernabé. AU - Sierra-Córcoles, Concepción. AU - Velázquez-Fragua, Ramón. AU - Collaborators Of The Cdg Spanish-Consortium. PY - 2017/6/9. Y1 - 2017/6/9. UR - ...
He subsequently returned to his home in Saint John, New Brunswick in Atlantic Canada where he works as an infectious diseases consultant and medical microbiologist. Duncan has been named an honorary research associate with the University of New Brunswick. He is an associate professor with Dalhousie University and an active teacher with the Dalhousie Medical School. He has numerous research interests and peer-reviewed publications and received the AMMI Canada Dr Juan A. Embil Award for Excellence in Infectious Diseases Research in 2006. He was awarded the Dalhousie Medicine Asclepian Torch Award in recognition for outstanding clinical teaching in 2012. For his innovative work in Infectious Diseases, Duncan was awarded the Dalhousie Medical Alumni Association Young Alumnus of the Year Award in 2012. In 2011, Duncan and his family established Foundation Glycosylation (the FoG) in order to support research for the development of therapies targeting CDG, to help raise awareness of the disorder ...
The incidence of congenital disorders of the respiratory tract is low and their effects are particularly seen during the first year of life. Congenital disorders can be subdivided into abnormalities of the thorax, specifically the diaphragm (hernia of the diaphragm), the lung (lung sequestration, cystic adenomatoid malformation, bronchogenic cyst, foregut cyst), the blood supply (aberrant vascularisation, double arch of the aorta), the airways (tracheal rings, tracheomalacia, tracheal atresia) and the larynx and oral cavity. Investigation and management of these diseases is usually organised in specialised centres.. Primary ciliary dyskinesia is an inherited disorder characterised by specific ultrastructural defects of cilia that are associated with impaired ciliary motion and mucociliary clearance. It results in ineffective clearance of mucous secretions and inhaled particles, including bacteria. The disease is ...
For the most part, this blog is not concerned with transgenderism or transvestism. Its focus is on the birth defect called transsexualism, characterized by incongruity between the sex of the brain and the sex of the body. From time to time the blog might deal with the various kinds of transgenderism but only as a contrast to transsexualism. Any condition or phenomenon that does not have to do with a brain/body mismatch is really outside the scope of this blog ...
LIST OF ACRONYMS. SIPD -Support Initiative for people with congenital disorders. DSDs - Differences of Sex Development. HRAPF - Human Rights Awareness and Promotion Forum. TBAs - Traditional Birth Attendants. EXECUTIVE SUMMARY. Understanding our journey: Background of the baseline survey. Support Initiative for People with Congenital Disorders (SIPD -Uganda), its clients, allies, and donors have had discussions around the possibility of conducting a Baseline Survey on intersex realities in Uganda and the East African region for a long time and it is our hope that this initial baseline survey focusing mainly on Uganda, Kenya, and Rwanda lived realities, will translate into other baseline surveys across sub- Saharan Africa.. Goal of the baseline survey. The purpose of the baseline survey is to "identify essential indicators to capture in describing the current context of the lives of intersex people and the state of organizing of intersex ...
Looking for online definition of CDG1L in the Medical Dictionary? CDG1L explanation free. What is CDG1L? Meaning of CDG1L medical term. What does CDG1L mean?
Autor: Guillard, Mailys et al.; Genre: Zeitschriftenartikel; Im Druck veröffentlicht: 2009-09; Keywords: Glycosylation; Cutis laxa; V-ATPase; Congenital disorders of glycosylation; OMIM 219200; Apolipoprotein C III; Titel: Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa
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In glycoprotein storage diseases (GSDs), certain subtypes of congenital disorders of glycosylation (CDGs), and in the mucolipidoses, there is an accumulation of oligosaccharides, free glycans, glycoamino acids, glycolipid and glycopeptide in the urine. Glycoprotein storage diseases are genetic conditions caused by the bodys inability to produce specific enzymes. Normally, the body uses enzymes to process, break down and recycle materials in cells. In individuals with GSD and related diseases, the missing or insufficient enzyme prevents the proper processing and recycling process. This results in the storage of materials, called oligosaccharides or free glycans and glycoamino acids in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system, immune system and central nervous system ...
Read "Hypoglycosylation due to dolichol metabolism defects, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease" on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
Mannose is a succar monomer o the aldohexose series o carbohydrates. Mannose is a C-2 epimer o glucose. Mannose is important in human metabolism, especially in the glycosylation o certain proteins. Several congenital disorders o glycosylation are associated wi mutations in enzymes involved in mannose metabolism.[1]. ...
The chemical reactions and pathways resulting in the formation of dolichol-linked oligosaccharide, usually by a stepwise addition of glycosyl chains to endoplasmic reticulum membrane-bound dolichol-P.
Disorders of platelet function include several rare congenital disorders, as well as a myriad of common acquired conditions (eg,use, effects of other drugs, liver disease, uremia). The consultant Hematologist is often asked to evaluate patients with
TY - JOUR. T1 - Liver histology of an afibrinogenemic patient with the Bβ-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bβ-L353R fibrinogen vs. the ERSD-associated γ-G284R mutant. AU - Duga, S.. AU - Braidotti, P.. AU - Asselta, R.. AU - Maggioni, M.. AU - Santagostino, E.. AU - Pellegrini, C.. AU - Coggi, G.. AU - Malcovati, M.. AU - Tenchini, Maria Luisa. PY - 2005/4. Y1 - 2005/4. N2 - Background. Type I fibrinogen deficiencies (hypofibrinogenemia and afibrinogenemia) are rare congenital disorders characterized by low or unmeasurable plasma fibrinogen antigen levels. Their genetic bases are represented by mutations within the three fibrinogen genes. Among the 11 reported missense mutations, a few have been characterized by expression ...
The Williams-Beuren syndrome (WBS) is a sporadic congenital disorder characterized by a multisystem developmental impairment. This syndrome is caused by a microdeletion in chromosome 7q11.23 that encompasses loss of the elastin locus.. Elastin, which is part of the extracellular matrix, controls proliferation of vascular smooth muscle cells (VSMCs) and stabilizes arterial structure. Loss of elastin gene in WBS patients has been claimed to provide a biological basis for the abnormal elastic fibre properties leading to cardiovascular abnormalities like supravalvular aortic stenosis (SVAS), hypertension, arteriosclerosis and stenosis in more than 50% of WBS children.. These cardiovascular pathologies result in important consequences and neither curative nor preventive medicinal treatments exist at this time. Surgery is needed in more than half cases, while it is often leading to complications.. Minoxidil is a well-known antihypertensive drug ...
Leading endocrinologists of Kashmir Valley have strongly recommended that the government must screen pregnant women and newborn children for hypothyroidism in the state to protect the next generation from developmental and physical morbidities associated with the congenital disorder. "Thyroid has become one of the common ailments across Kashmir with over 30 percent people diagnosed with Thyroid disorders including subclinical hypothyroidism. We must gear up for mass awareness and mass screening of pregnant ladies and newborn babies so that we save our next generation," a known Endocrinologist of Valley Dr. Ashraf Ganai said while addressing post graduate students and medical practitioners at a conference here. In his talk Effects of Hypothyroidism on pregnancy, Dr Ganai emphasized the need to raise awareness about its rising incidence and explained that the thyroid gland is a major gland in the endocrine system and affects nearly every organ ...
1. Introduction. Microvillous inclusion disease (MVD) or microvillous atrophy disorder is a congenital disorder of the small intestinal epithelial cells that presents with persistent and severe diarrhea and it is characterized by enterocyte abnormalities [1] . The diarrhea starts in the first 72 hours of life (early onset form) or in 6 to 8 weeks after birth (late onset) [2] . This inheritance of MVD appears to be autosomal recessive, based on cases occurring in siblings and high incidence of consanguinity [3] . Molecular studies demonstrate mutation of the MYO5B that encoded for myosin 5b has a role in pathogenesis of the MVD [4] . Diagnosis is often delayed because of difficulties in taking a small bowl biopsy specimen in the neonatal period. Light microscopy shows enteropathy, and severe atrophy of the enterocytes brush borders, with instead of, accumulation of Periodic Acid Schiff (PAS) and CD10 positive granules at the apical pole of immature ...
When the WBC count per blood test is below normal, the culprit is most likely an underlying disease condition. Symptoms can and do vary depending on the exact disease culprit. Surprisingly, some people do not experience any symptoms, but most people experience a wide range of symptoms.. Common disease conditions which cause leukopenia include: autoimmune disorders, various types of infections, congenital disorders, immunodeficiency disorders, infections that constrict bone marrow function, Leukemia, and conventional cancer treatments. Drugs which may cause a low count include antibiotics, diuretics, and antihistamines, to name a few.. Ironically, Big Pharmas cutting edge, smart bomb chemotherapy drugs are designed to specifically target cells that rapidly divide like tumor cells. A major problem with this crude approach is that white blood cells, an integral part of the immune system, also fall into the rapidly dividing category. Not ...
Dr. Pankaj Goel has completed MBBS from Baroda Medical College, Vadodara in 2000, MD (Pediatrics) in 2003 from same college & DNB (Pediatrics) from Delhi University, Delhi in 2004 and has expertise in Adolescent Medicine, Chickenpox Treatment, Viral Fever Treatment, Newborn Jaundice, Bronchial Asthma Treatment, Measles Treatment, Congenital Disorders Evaluation / Treatment, Autism, Genetic Diseases, Infant & Child nutrition, Attention Deficit Hyperactivity Disorder (ADHD) Treatment, New Born Care, Learning Disability (Dyslexia) Treatment, Vaccination/ Immunization, Development Assessment, Nutritional Assessment, Menstrual Disorders in Adolescent Girls, Paediatric Critical Care, Polycystic Ovary Syndrome in Adolescence, Growth & Development Evaluation / Management, Diabetes in Children, Childhood Infections, Patient Counselling etc ...
From UniProt:. A chromosomal aberration involving NHEJ1 is found in a patient with polymicrogyria. Translocation t(2;7)(q35;p22).. Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID): SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. NHEJ1-SCID is characterized by a profound T- and B-lymphocytopenia associated with increased cellular sensitivity to ionizing radiation, microcephaly and growth retardation. Some patients may manifest SCID with sensitivity to ionizing radiation without microcephaly and mild growth retardation, probably ...
Lectures: 1.History of genetics and its division. Cell cycle and mitosis. Meiosis. Gametogenesis in male and female. 2.Structure and function of DNA. Gene and genetic information transfer. 3.Mendels laws. Basic terms:genotype, phenotype, dominance, recessivity, homozygote, heterozygote, types of heredity. 4.Caryotype, structure of chromosome. Investigative methods in cytogenetics. Origins and types of chromosomal abberations, numerical and structural chromosomal abberations. 5.Syndromes: Down, Edwards, Patau, cat cry, Klinefelter, XYY, Turner etc. 6.Investigative methods in molecular genetics, genetic engineering. 7.Genetic advisory and prenatal diagnostics of defects and congenital disorders. 8.Genetic disorders of human metabolism, options of treatment. 9.Impact of mutagenic factors of external environment ...
Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting from knockouts of these genes in mice have provided tremendous insight into gene function and congenital disorders. As part of the International Mouse Phenotyping Consortium effort to generate and phenotypically characterize 5,000 knockout mouse lines, here we identify 410 lethal genes during the production of the first 1,751 unique gene knockouts. Using a standardized phenotyping platform that incorporates high-resolution 3D imaging, we identify phenotypes at multiple time points for previously uncharacterized genes and additional phenotypes for genes with previously reported mutant phenotypes. Unexpectedly, our analysis reveals that incomplete penetrance and variable expressivity are common even on a defined genetic background. In ...
Research reports have documented a range of cognitive and behavioural outcomes associated with prenatal alcohol exposure. Contemporary studies have reported some of these outcomes in the absence of FAS physical features. Currently, no modal profile of abilities has been found to be unique to alcohol exposure, is observed in all those with prenatal alcohol exposure, or can be distinguished from that observed with some other neurobehavioural disorders. Furthermore, not every deficit that we may identify in a child with prenatal exposure to alcohol may be solely the result of alcohol exposure. An expert analysis of neurodevelopmental deficits caused by a range of teratogens and congenital disorders failed to result in a consensus on core deficits associated only with FASD.4. Research and experience has shown that features of FASD are complex and multifaceted, originating with organic brain damage caused by alcohol, but interacting with genetic ...
Blepharochalasis: drooping, sagging eyelids. Blepharoplasty: surgical removal of excess skin of the eyelids. Capsulotomy: incision of a capsule (i.e., eye or joint). Congenital disorder: known to result in significant impairment of health or intellect. Crouzons syndrome: an inherited disorder that is controlled by an autosomal dominant gene, and is characterized by malformation of the skull duet to premature ossification and closure of sutures and by widely spaced eyes, abnormal protrusion of the eyeballs, a beaked nose, underdeveloped of the maxilla with protrusion of the mandible. Dermabrasion: planing of the skin, done by mechanical means (i.e., rotary power sander, sandpaper, wire brushes). Genioplasty: surgical correction of the chin and lip. Hemangioma: a usually benign tumor made up of blood vessels that typically occurs as a purplish or reddish slightly elevated area of skin. Hirsutism: excessive growth of hair of normal or abnormal ...
The bone and cartilage located in the in nose is called the nasal septum. This separates the nasal cavity into two nostrils. The bones that comprise the septum include the maxillary crest, the perpendicular plate of the ethmoid and vomer. There is also the quadrangular cartilage. The septum lies normally at the center, making nasal passages symmetrical. A deviated septum is a condition in which the top of the cartilaginous ridge would lean to the side. This causes an obstructed nasal passage. This may result to a poor drainage in the sinuses. Most patients also complain of sleeping disorders like s apnea or snoring, headaches, bloody noses, and difficulty in breathing. Yet, the septum can bend to the left or right as a part of his growth or puberty. But most frequently is it caused by an impact trauma such as a blow on his face. Sometimes, it can be a congenital disorder, where the nose could have been compressed during birth. Deviated septum can also be associated with ...
TY - JOUR. T1 - Shp2 function in hematopoietic stem cell biology and leukemogenesis. AU - Nabinger, Sarah C.. AU - Chan, Rebecca J.. PY - 2012/7/1. Y1 - 2012/7/1. N2 - Purpose of review: The protein tyrosine phosphatase Shp2 is encoded by PTPN11 and positively regulates physiologic hematopoiesis. Mutations of PTPN11 cause the congenital disorder Noonan syndrome and pathologically promote human leukemias. Given the high frequency of PTPN11 mutations in human disease, several animal models have been generated to investigate Shp2 in hematopoietic stem cell (HSC) function and leukemic transformation. Recent findings: Two independent animal models bearing knockout of Shp2 in hematopoietic tissues clearly demonstrate the necessity of Shp2 in HSC repopulating capacity. Reduced HSC quiescence and increased apoptosis accounts for diminished HSC function in the absence of Shp2. The germline mutation Shp2D61G enhances HSC activity and ...
Background: X-linked (Brutons) agammaglobulinemia (XLA) is a rare congenital disorder with defects in early B cell development caused by mutations in the gene encoding BTK (Bruton tyrosine kinase). The aim of this study was to investigate the expression and phosphorylation of BTK protein domain in these patients.Materials and Methods: A total of 19 patients with mutations in BTK gene were analyzed for the expression and phosphorylation of BTK protein through immunoblotting. The correlations between BTK expression and the results of immunoblotting as well as clinical and immunologic phenotypes were evaluated. Results: Six patients showed normal expression of protein and phosphorylation of BTK and two patients had normal phosphorylation while no expression was observed. There was a significant difference between the groups of patients with normal expression of protein and those without it (p=0.01). Conclusion: Since we ...
Dysplasia: Dysplasia, malformation of a bodily structure or tissue; the term most commonly denotes a malformation of bone. Chondroectodermal dysplasia (Ellis-van Creveld syndrome) is a rare congenital disorder; it is hereditary (autosomal recessive). Affected individuals exhibit heart abnormalities (which may
Pregnancy is a time of anticipation. And for many parents, its also a time of worry, mostly over the health of the unborn child. But Bostons medical establishment is on the cutting edge of advances that can allay expectant parents fears over the congenital abnormalities and diseases that can be passed down to new generations. No test yet exists to screen for all problems, but there are a few specific exams that parents can now utilize. For example, a new procedure to check for Down syndrome is being tried at the New England Medical Center, part of a national study sponsored by the National Institutes of Health.. Down syndrome is a congenital disorder caused by a chromosome abnormality that can result in mental retardation, heart defects, and an increased incidence of acute leukemia, among other complications. The new process allows women to be examined at a much earlier point in their pregnancies with what is hoped to be ...
Tricho-dento-osseus-like syndrome in a Brown Swiss calf A novel congenital disorder affecting a six-month-old female Brown Swiss calf was observed, and its phenotype and genetic mutation identified. Diagnostic investigation and whole genome sequencing of a case parent trio was performed. A very informative case Report that has been published recently ...
Osteoarthritis (OA) is a progressive degenerative disease of the diarthrodial joints especially those that are weight bearing (Danning, 2013), including the knees, hips, shoulders and spine, but can occur at any joint. Figure 1 contains the diarthrodial joints. OA is characterized by the degeneration of articular cartilage and formation of subchondral bone and new bone at the joint margins (Danning, 2013). Increasing age correlates with the progressive nature of the disease (but does not cause the disease) finding the highest incidence in populations over 70 years. Postmenopausal woman are greatly affected in the knee and hand joints. The etiology of osteoarthritis results from mechanical and/or biochemical factors. Mechanical causes include misalignment of the joint, wear and tear of joints due to obesity, previous joint trauma/injury including surgeries and congenital disorders. Biochemical causes include dehydration, mineral and ...
downs syndrome (noun) = a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation Synonyms: mongolism, mongolianism, Downs_syndrome, Down_syndrome, trisomy_21 ...
Schizencephaly is an uncommon congenital disorder of cerebral cortical development. Although a well-recognized cause of seizures and developmental deficits in children, previous reports describe the range of neurode-velopmental outcome in only 47 patients. We report the clinical and cranial imaging features of 47 children with unilateral open-lip (171, unilateral closed-lip (121, bilateral open-lip (121, and bilateral closed-lip (6) schizencephaly, as defined radiologically. The schizencephalic cleft occurred more often in the anterior than in the posterior neocortex. Children with closed-lip schizencephaly presented with hemiparesis or motor delay whereas patients with open-lip schizencephaly presented with hydrocephalus or seizures. Forty-three patients (91%) had associated cerebral developmental anomalies, most commonly absence of the septum pellucidum (45%) and focal cortical dysplasia (40%). There was a history of seizures in 57% of cases, a third of which were classified as difficult ...
The search strategy in the MEDLINE database retrieved 32 publications, of which only 6 met the inclusion criteria. The remaining publications were excluded for the following reasons: eight studied outcomes other than fetal death (abortion, preterm, low birth weight, congenital disorders, or intrauterine growth retardation); one was a case report; seven were letters to editors; six were reviews; one was not related to caffeine consumption during pregnancy; and three were not related to caffeine consumption at all.. Among the six articles which met the inclusion criteria, three were included 11,13,14. Among the excluded articles, two focused their exposures on alcohol and cigarette smoking 15,16 and used the same database as in one of the included articles 13 and the other presented data already reported elsewhere 17. The see related articles feature in PubMed allowed us to find one more article 18. Hand-searching the references of the articles which fulfilled the eligibility ...
Looking for amino diabetes? Find out information about amino diabetes. A congenital disorder characterized by excessive quantities of amino acids, glucose, and phosphate in the urine, resulting from deficient resorption in the... Explanation of amino diabetes
Acetylcholinesterase (AChE) is a tetrameric serine hydrolase that rapidly catalyzes the hydrolysis of acetylcholine to acetate and choline. The breakdown of acetylcholine is critical for the termination of impulse transmissions at cholinergic synapses within the nervous system. Progressive loss of cholinergic neurons in Alzheimers disease (AD) patients results in severe memory loss and impairment of cognitive function. AChE inhibitors are a strategic approach to symptomatic treatment for AD, since AChE inhibitors increase the levels of acetylcholine in the synapse, thereby enhancing cholinergic activity in the affected regions of the brain. AChE also plays an important role in agriculture since modifications in AChE can confer resistance to pesticides. AChE is a key component in many snake venoms, and AChE staining is routinely used for the initial diagnosis of Hirschsprungs disease, a congenital disorder caused by the absence of ganglion cells in the distal colon ...
Phoebe Patterson says a scar on her chest and malformed ear, an abnormality in some cases among people born with a heart disease that affects over 65,000 Australians, influences the way she is regarded.. The 20-year-old says that these physical features are part of the reason that she was seen differently. "Ive always grown up with the stigma of Ive been different (as) I have always been noticeably physically different," she says.. Congenital heart disease (CHD), which refers to a heart disease that is present at birth, is the most common congenital disorder with up to 3000 newborns in Australia diagnosed every year.. Phoebe has transposition of the great arteries, where the aorta is connected to the right ventricle, and the pulmonary artery is connected to the left ventricle, the opposite of a normal hearts anatomy.. Phoebe also has a ventricular septal defect which is a hole in the wall separating the two lower chambers of the heart.. She says that other ...
Auditory function in the tc1 mouse model of down syndrome suggests a limited region of human chromosome 21 involved in otitis media. 2012 Kuhn S, Ingham N, Pearson S, Gribble SM, Clayton S, Steel KP, Marcotti W. Source Department of Biomedical Science, University of Sheffield, Sheffield, United Kingdom. Abstract Down syndrome is one of the most common congenital disorders leading to…
Raine syndrome, also called osteosclerotic bone dysplasia, is a rare autosomal, recessive congenital disorder characterized by craniofacial anomalies.
CRT is any-part of the wheelchair that was made to fit the persons unique needs from the base of the wheelchair up or frame.. Complex Rehab Technology Defined. The Products. Complex Rehab Technology (CRT) products and associated services include medically necessary, individually configured devices that require evaluation, configuration, fitting, adjustment or programming. These products and services are designed to meet the specific and unique medical,. physical, and functional needs of an individual with a primary diagnosis resulting from a congenital disorder, progressive or degenerative neuromuscular disease, or from certain types of injury or trauma. For purposes of this document, CRT refers to individually configured manual wheelchair systems, power wheelchair systems, adaptive seating systems, alternative positioning systems and other mobility devices.. The Person. These products and services are designed to meet the specific and unique medical and functional needs of ...
Complete DiGeorge anomaly is a congenital disorder characterized by athymia. Without successful treatment, children remain immunodeficient and usually die by age 2 years. In infants with complete DiGeorge anomaly and no T cells, thymus transplantation without immunosuppression resulted in diverse T cell development and good T cell function. Some infants with no thymus have some T cells that presumably developed extrathymically; these T cells can reject a thymus graft. The purpose of this study is to design better immunosuppression use for complete DiGeorge anomaly subjects who have some T cells and different T cell function levels. This protocol includes 3 immunosuppression regimens to allow subjects with different T cell function levels to be suppressed adequately.. DiGeorge infants who have successful thymus transplants but remain with hypoparathyroidism must go to the clinic for frequent calcium levels and to the hospital for calcium infusions; these infants are at risk for seizures from ...
Long QT syndrome (LQTS) is a congenital disorder characterized by a prolongation of the QT interval on electrocardiograms (ECGs) and a propensity to ventricular tachyarrhythmias, which may lead to syncope, cardiac arrest, or sudden death. (See Etiology, Prognosis, Presentation, and Workup.
cri-du-chat syndrome: Congenital disorder caused by partial deletion of the short arm of chromosome 5. It is named for its characteristic symptom, a high-pitched wailing cry likened to that of a cat...
In the previous message, I talked about the negative and positive aspects of assisted reproductive medicine today. In this message, I would like to discuss the wide-ranging impact that in vitro fertilization, the main method of assisted reproductive medicine, is having on regenerative medicine. Regenerative medicine generally refers to using cells and genes to artificially create tissues and organs and then transplanting them to regenerate physiological functions in patients. Many people suffer from the loss or failure of tissues or organs as a result of a congenital disorder, illness or accident. While treatment also aims to enhance the innate self-organizing ability of the body to repair systems and organs to normal structure and function, in most cases, it must rely on transplants from donors. With transplants from donors, however, there is the problem of rejection and also a limit to the number of ...
... is a rare congenital disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, short stature and skeletal abnormalities. This is the forum for discussing anything related to this health condition
Hematoporphyrin disease is actually a pigment called porphyrin accumulation in the skin, bones and teeth related diseases caused by collectively. Many porphyrins are harmless in the dark, but sunlight can be converted to meat-type corrosive toxin. If you do not treat the disease, the most serious symptoms (such as red blood cell formation of congenital disorder of blood porphyrin) will lead to deformation of the body and eventually into peoples imagination in the resurrection of the zombies as the terrorist of the malformations - ears and nose of patients to be " take ", and her lip and gum erosion, exposed root red, dense scar the skin, such as the zombie-like pale (reflecting the potential anemia). Because of anemia through blood transfusions, some historians speculate that the dark ages in Europe, the Middle Ages, the blood in patients with porphyria may be trying to drink the blood of such prescriptions to treat. Leaving aside the veracity of this assertion how the blood of those with ...
Gout is one of the most painful types of arthritis. Gout was once incorrectly thought to be a disease of the rich and famous, caused by consuming too much rich food and fine wine. Gout is a disease due to a congenital disorder of uric acid metabolism. Uric acid is produced when purines are broken down by enzymes in the liver. Purines can be generated by the body itself (via the breakdown of cells in normal cellular turnover) or can be ingested in purine-rich foods (e.g. seafood, beer). Gout usually attacks the big toe (approximately 75% of first attacks), however it can also affect other joints such as the ankle, heel, instep, knee, wrist, elbow, fingers, and spine. In some cases the condition may appear in the joints of the small toes which have become immobile due to impact injury earlier in life, causing poor blood circulation that leads to gout. Chronic gout can lead to deposits of hard lumps of uric acid in and around the joints, decreased kidney function, and kidney ...
Buried penis is a true congenital disorder in which a penis of normal size lacks the proper sheath of skin and lies hidden beneath the integument of the abdomen, thigh, or scrotum. This condition is more common in children. Differentiation among the terms includes: concealed (before circumcision), trapped (cicatricial [scarred] after circumcision), and buried (associated with adolescence and obesity).
Adults with buried penis are commonly obese and often have a history of trauma or surgery.
Numerous techniques have been described for repairing the buried penis. In pediatric cases, sources have described the essential nature of dividing dysgenetic dartos bands and fixation of the dartos fascia to the Buck fascia dorsally in the midline, ventrally over the corpus spongiosum, and proximally along the penile shaft. Defatting of the mons pubis is an essential step in buried penis repair in adult patients. Consideration for surgical reconstruction necessitates earnest ...
Down syndrome or congenital disorders? Indianapolis, Indiana Social Security Disability Attorney Scott D. Lewis and his team of lawyers offer a free consultation.
Orthopedic surgeons use surgical and non-surgical methods to treat musculoskeletal trauma, sports injuries, degenerative diseases, infections, tumors and congenital disorders. See below to find local orthopedic surgeons in Springville that give access to treatment for knee arthroscopy, and lumbar spinal fusion, as well as advice and content on pediatric orthopedics and surgical sports medicine.
Orthopedic surgeons treat musculoskeletal trauma, sports injuries, degenerative diseases, infections, tumors, and congenital disorders through surgical and nonsurgical methods. See below for local orthopedic surgeons in East Brunswick, NJ that give access to orthopedic surgery, as well as advice and content on orthopedics.
Orthopedic surgeons treat musculoskeletal trauma, sports injuries, degenerative diseases, infections, tumors, and congenital disorders through surgical and nonsurgical methods. See below for local orthopedic surgeons in Laramie, WY that give access to orthopedic surgery, as well as advice and content on orthopedics.
The deposits may end up in elevation of the epithelium in a band-shaped configuration. The situation is extra universal in geographic areas with excessive degrees of direct and mirrored sun. III. MISCELLANEOUS problems OF THE CONJUNCTIVA LYMPHANGIECTASIS Lymphangiectasis is characterised via localized small, transparent, tortuous dilations within the conjunctiva. theyre basically dilated lymph vessels, and no therapy is indicated until theyre frustrating or cosmetically objectionable. they could then be cauterized or excised (Figure 5-33). determine 5-33. Conjunctival lymphangiectasis. word the transparent tortuous dilations within the conjunctiva. CONGENITAL CONJUNCTIVAL LYMPHEDEMA this can be a infrequent entity, unilateral or bilateral, and characterised through pinkish, fleshy edema of the bulbar conjunctiva. often saw as an remoted entity at delivery, the is believed to be as a result of a congenital disorder within the lymphatic drainage of the conjunctiva. its been ...
The sns (septated not in S-phase) mutant screen identified temperature sensitive S. pombe mutants unable to complete the mitosis to interphase transition ( Matynia et al., 1998). Like the previously characterized RanGEF mutant pim1-d1, the sns mutants arrest after mitosis but before S-phase with condensed unreplicated chromosomes, a medial septum and abnormal NEs. Among the ten strains not mutated in pim1, the terminal phenotypes of sns-A10, sns-B2 and sns-B9 most closely resemble that of pim1-d1 and these three mutants also have genetic interactions with components of the Ran GTPase system. The genes mutated in sns-A10, sns-B2, and sns-B9 were identified by complementation of their temperature-sensitive lethality. All three were found to encode proteins required for protein secretion: sns-B9 is mutated in pmm1, sns-A10 is mutated in sar1, and sns-B2 is mutated in sec31.. Phosphomannomutase (Pmm) is an evolutionarily conserved enzyme that converts ...
Increased understanding of the role of protein- and lipid-linked carbohydrates in a wide range of biological processes has led to interest in drugs that target the enzymes involved in glycosylation. But given the importance of carbohydrates in fundamental cellular processes such as protein folding, therapeutic strategies that modulate, rather than ablate, the activity of enzymes involved in glycosylation are likely to be a necessity. Two such approaches that use imino sugars to affect glycosylation enzymes now show considerable promise in the treatment of viral infections, such as hepatitis B, and glucosphingolipid storage disorders, such as Gaucher disease.
Diversity in protein glycosylation among insect species. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
Hi guys, just wanting a little help with your opinions, both wonderwood and standard are warm and pencil-like sophisticated smell and well infused with cedarwood. wonderwood is packed with pepper, nutmeg, incense, and of course, woods while standard is crafted from twinflower, ginger, fennel, saffron, and indian tea(which smells like cummin). Well which of them is more sexy and sensuous to you guys. Thanks
In-depth N-glycome profiling of paired colorectal cancer and non-tumorigenic tissues reveals cancer-, stage- and EGFR-specific protein N-glycosylation.. PubMed Entry. ...

Congenital disorder of glycosylation - WikipediaCongenital disorder of glycosylation - Wikipedia

"A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)". The Journal of Clinical ... Most common severe types include: The specific problems produced differ according to the particular abnormal synthesis involved ... Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. (2004) Nat. Med. 10, 518-23. Kornak U, ... causes a novel congenital disorder of Glycosylation Type Ij". Human Mutation. 22 (2): 144-50. doi:10.1002/humu.10239. PMID ...
more infohttps://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation

Clinical Trial Readiness for the Dystroglycanopathies - Full Text View - ClinicalTrials.govClinical Trial Readiness for the Dystroglycanopathies - Full Text View - ClinicalTrials.gov

... by review of muscle pathology OR documented mutation in one of the known genes OR abnormal alpha-dystroglycan glycosylation in ... The disorders are caused by mutations, or changes, in genes. Genes are tiny pieces of inherited material (DNA) that direct the ... fukutin-related protein gene. FKRP gene. muscular dystrophy. MD. limb girdle. congenital muscular dystrophy. childhood onset ... Patients with dystroglycanopathies could have mutations in any one of the 18 currently identified genes, or evidence of ...
more infohttps://clinicaltrials.gov/ct2/show/NCT00313677?cond=LGMD2I&rank=4

Clinical Trial Readiness for the Dystroglycanopathies - Full Text View - ClinicalTrials.govClinical Trial Readiness for the Dystroglycanopathies - Full Text View - ClinicalTrials.gov

... by review of muscle pathology OR documented mutation in one of the known genes OR abnormal alpha-dystroglycan glycosylation in ... The disorders are caused by mutations, or changes, in genes. Genes are tiny pieces of inherited material (DNA) that direct the ... fukutin-related protein gene. limb girdle. FKRP gene. congenital muscular dystrophy. childhood onset LGMD. adult onset LGMD. ... Patients with dystroglycanopathies could have mutations in any one of the 18 currently identified genes, or evidence of ...
more infohttps://clinicaltrials.gov/show/NCT00313677

COG5 gene - Genetics Home Reference - NIHCOG5 gene - Genetics Home Reference - NIH

At least eight mutations in the COG5 gene are known to cause COG5-congenital disorder of glycosylation (COG5-CDG). This ... This disruption results in abnormal protein glycosylation, which can affect multiple body systems, leading to the signs and ... Mutations in the COG5 gene reduce the amount of COG5 protein or eliminate it completely, which disrupts retrograde transport in ... COG5 gene. component of oligomeric golgi complex 5. Enable Javascript to view the expand/collapse boxes.. Printable PDF Open ...
more infohttps://ghr.nlm.nih.gov/gene/COG5

ALG12 Gene - GeneCards | ALG12 Protein | ALG12 AntibodyALG12 Gene - GeneCards | ALG12 Protein | ALG12 Antibody

... disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium ... Complete information for ALG12 gene (Protein Coding), ALG12, Alpha-1,6-Mannosyltransferase, including: function, proteins, ... Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal ... Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]: A form of congenital disorder of glycosylation, a multisystem ...
more infohttp://www.genecards.org/cgi-bin/carddisp.pl?gene=ALG12

ALG12 - WikipediaALG12 - Wikipedia

Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal ... 2004). "Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig". Pediatr. Res. 54 (2 ... GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview Human ALG12 genome location and ALG12 gene ... Jaeken J, Carchon H (2004). "Congenital disorders of glycosylation: a booming chapter of pediatrics". Curr. Opin. Pediatr. 16 ( ...
more infohttps://en.wikipedia.org/wiki/ALG12

Gene ID: 440138 | ALG12 Antibody ResourceGene ID: 440138 | ALG12 Antibody Resource

Gene: ALG12 , Review 3 of antibodies with 1 images, 1 of protocols, relevant gene trends, publication graphs, tissue expression ... Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal ... Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]: A multisystem disorder caused by a defect in glycoprotein ... Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system ...
more infohttps://www.avivasysbio.com/sd/genepage/page/alg12.php

How is congenital muscular dystrophy (CMD) diagnosed prenatally?How is congenital muscular dystrophy (CMD) diagnosed prenatally?

... because this is the most common congenital muscular dystrophy. Laminin-α2 is expresse... more ... Prenatal diagnosis had been performed most commonly in families with mutations in laminin-α2, in part, ... Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. ... a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. ...
more infohttps://www.medscape.com/answers/1180214-189749/how-is-congenital-muscular-dystrophy-cmd-diagnosed-prenatally

ALG13 Gene - GeneCards | ALG13 Protein | ALG13 AntibodyALG13 Gene - GeneCards | ALG13 Protein | ALG13 Antibody

... disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium ... Complete information for ALG13 gene (Protein Coding), ALG13, UDP-N-Acetylglucosaminyltransferase Subunit, including: function, ... Publications for ALG13 Gene * Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing ... Relevant External Links for ALG13 Gene. Human Gene Mutation Database (HGMD). ALG13 SNPedia medical, phenotypic, and ...
more infohttp://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=79868

Professor Derek Blake - People - Cardiff UniversityProfessor Derek Blake - People - Cardiff University

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin 2 ... cause a form of congenital muscular dystrophy with secondary laminin 2 deficiency and abnormal glycosylation of -dystroglycan. ... Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review. Movement Disorders 26(10), pp ... FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. Neurology 60(6), pp. 988-992 ...
more infohttps://www.cardiff.ac.uk/people/view/122804-blake-derek

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach...A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach...

... are a group of hereditary metabolic diseases characterized by abnormal glycosylation of proteins and lipids. Often, multisystem ... Congenital disorders of glycosylation (CDG) are a group of hereditary metabolic diseases characterized by abnormal ... Next generation sequencing revealed a de novo mutation (c.797G , T, p.G266V) in the X-chromosomal gene SLC35A2 (solute carrier ... Martinez I, Duncker I, Dupre T et al (2005) Genetic complementation reveals a novel human congenital disorder of glycosylation ...
more infohttps://rd.springer.com/article/10.1007/s10545-015-9828-6

EURORAD - Radiologic Teaching FilesEURORAD - Radiologic Teaching Files

Congenital disorders of glycosylation (CDG) is an autosomal recessive disorder which is caused by abnormal glycosylation of ... The most common form is CDG type-Ia and is caused by a mutation of the PPM-2 gene, which encodes a cytosolic enzyme ... Congenital disorder of glycosylation, a neuroradiologic case report.. Author(s). Dr. H. Vandermaesen, Dr. L. Flamée, Dr. J. ... 2012) The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a. AJNR Am J ...
more infohttp://www.eurorad.org/eurorad/case.php?id=15330&lang=en

Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature | springermedizin.deCardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature | springermedizin.de

Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation. This ... Wu X, Steet RA, Bohorov O et al (2004) Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat ... cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha- ... Timal S, Hoischen A, Lehle L et al (2012) Gene identification in the congenital disorders of glycosylation type I by whole- ...
more infohttps://www.springermedizin.de/cardiac-complications-of-congenital-disorders-of-glycosylation-c/13314662

TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy, Skeletal Muscle | 10...TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy, Skeletal Muscle | 10...

"TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy, Skeletal Muscle" on ... Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular ... Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and ... dol-P-man (a lipid-linked monosaccharide) resulting in abnormal N-linked glycosylation as well as the O-linked PublishersNote ...
more infohttps://www.deepdyve.com/lp/springer_journal/trappc11-and-gosr2-mutations-associate-with-hypoglycosylation-of-h62RmQ9kaa

Microcephaly: Background, Anatomy, PathophysiologyMicrocephaly: Background, Anatomy, Pathophysiology

Postanatal onset microcephaly can result from inborn errors of metabolism including congenital disorders of glycosylation, ... mutation in the abnormal spindle microtuble assembly (ASPM) gene, which impacts cell division of neural progenitor cells ... mitochondrial disorders, peroxisomal disorders, and Menkes disease. Disruptive injuries such as traumatic brain injury, ... Congenital microcephaly: phenotypic features in a consecutive sample of newborn infants. J Pediatr. 2001 Aug. 139 (2):210-4. [ ...
more infohttps://emedicine.medscape.com/article/2500048-overview

Polymicrogyria: pathology, fetal origins and mechanisms | Acta Neuropathologica Communications | Full TextPolymicrogyria: pathology, fetal origins and mechanisms | Acta Neuropathologica Communications | Full Text

Other mechanisms which may lead to PMG include premature folding of the neuronal band, abnormal fusion of adjacent gyri and ... PMG is described in a number of metabolic disorders including Zellwegers syndrome [94], congenital disorders of glycosylation ... To date mutations in a large number of genes have been associated with PMG [4]. However, none has yet been identified in which ... It can be impossible to identify abnormal folding patterns, particularly by radiology, before this time. Abnormal undulation of ...
more infohttps://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-014-0080-3

Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation...Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation...

... function mutations in the human PMM2 gene was shown over two decades ago to be the basis of a recessive congenital disorder of ... abnormal eye movements, psychomotor retardation and cerebellar hypoplasia (Matthijs et al., 1997). As patients reach their ... 2018). Congenital disorders of glycosylation. Ann. Transl. Med. 6, 477. doi:10.21037/atm.2018.10.45. ... 2019). Yeast models of phosphomannomutase 2 deficiency, a congenital disorder of glycosylation. G3 9, 413-423. ...
more infohttps://dmm.biologists.org/content/12/11/dmm040584

OpenEmory | Search ResultsOpenEmory | Search Results

DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation by Melanie A. ... many patients with abnormal transferrin do not have mutations in any known CDG genes. Here, we combined biochemical analysis ... Congenital disorders of glycosylation (CDG) are inherited autosomal-recessive diseases that impair N-glycosylation. ... Although most patients receive a CDG diagnosis based on abnormal glycosylation of transferrin, this test cannot provide a ...
more infohttps://open.library.emory.edu/publications/search/?journal=American%20Journal%20of%20Human%20Genetics

Cutis Laxa, Autosomal Recessive, Type Iia disease: Malacards - Research Articles, Drugs, Genes, Clinical TrialsCutis Laxa, Autosomal Recessive, Type Iia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. 56 ... At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases. Wikipedia : 74 De Barsy syndrome ... congenital hip dislocation Laboratory Abnormalities:. abnormal isoelectric focusing of serum transferrin defect in n- and o- ... UniProtKB/Swiss-Prot : 73 Cutis laxa, autosomal recessive, 2A: A disorder characterized by an excessive congenital skin ...
more infohttps://www.malacards.org/card/cutis_laxa_autosomal_recessive_type_iia

Abstracts of Papers at the sixty-second annual meeting of the society of general physiologists | JGPAbstracts of Papers at the sixty-second annual meeting of the society of general physiologists | JGP

Gene-targeting and human genetics studies show that heterozygous-null mutations in the genes encoding the SERCA2 (Atp2a2) or ... Another class of muscular dystrophies in which repair, not structure, of the plasma membrane is abnormal is linked to mutations ... This rare genetic disorder is characterized by autism spectrum disorder (ASD) along with cardiac arrhythmias and webbed fingers ... Additional data from our group indicate that treatment of Xenopus oocytes with an inhibitor of protein glycosylation ( ...
more infohttp://jgp.rupress.org/content/132/1/3a

TumorPortalTumorPortal

Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal ... This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth ... asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase). External References: Wikipedia ... "Mouse over" a mutation to see details.. • Missense green saturation indicates evolutionary conservation of the mutated ...
more infohttp://www.tumorportal.org/view?geneSymbol=ALG12

Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG) | JA Clinical...Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG) | JA Clinical...

Gene analysis revealed a compound heterozygous mutation in the gene encoding PMM2 and the patient was diagnosed as having PMM2- ... and some dysmorphic features including inverted nipples and abnormal subcutaneous fat distribution of the hips. ... Congenital disorders of glycosylation (CDGs) are very rare genetic disorders that lack enzymes needed for glycosylation. ... Glycosylation is one of the major posttranslational modifications of proteins and it is essential for proteins to obtain normal ...
more infohttps://jaclinicalreports.springeropen.com/articles/10.1186/s40981-017-0080-y

Congenital Disorder of Glycosylation, Type Ia | Hereditary Ocular DiseasesCongenital Disorder of Glycosylation, Type Ia | Hereditary Ocular Diseases

This condition is caused by a gene mutation which must be present in both genes to result in disease. Parents with only one ... There is nearly always some abnormal pigmentation of the retina in the back of the eye which causes night blindness and ... This is one of a large group of similar errors of metabolism in which a rare enzyme defect (secondary to a gene mutation) leads ... risk of inheriting this disorder when they inherit the mutation from each parent. ...
more infohttp://disorders.eyes.arizona.edu/handouts/congenital-disorder-glycosylation-type-ia

Rehabilitation Management of Neuromuscular Disease: Overview, Clinical Characteristics of Neuromuscular Disease, Management of...Rehabilitation Management of Neuromuscular Disease: Overview, Clinical Characteristics of Neuromuscular Disease, Management of...

... a fatal congenital muscle disease caused by mutation in MTM1, the gene encoding myotubularin, a lipid phosphatase. In Mtm1- ... and glycosylation disorders of α-dystroglycan. The latter group is often associated with CNS defects, including lissencephaly, ... Age of onset and severity of symptoms are dependent on the number of abnormal DNA repeats. DM1 may appear at birth (C-DM) up to ... DM1 is caused by mutations in the DMPK gene, while DM2 results from mutations in the CNBP gene. While the exact functions of ...
more infohttps://emedicine.medscape.com/article/321397-overview

SSR4-CDG             | Genetic and Rare Diseases Information Center (GARD) - an NCATS ProgramSSR4-CDG | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy; CDG1Y ; CDG IY; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy; CDG1Y ; CDG IY; ... mutations. in the gene. SSR4 (Xq28).. Visit the Orphanet disease page for more resources. ... Abnormal facial shape. Unusual facial appearance 0001999 Generalized hypotonia. Decreased muscle tone ... congenital. disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay. in ...
more infohttps://rarediseases.info.nih.gov/diseases/12405/ssr4-cdg
  • Most common severe types include: The specific problems produced differ according to the particular abnormal synthesis involved. (wikipedia.org)
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