A group of connective tissue diseases in which skin hangs in loose pendulous folds. It is believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation. Cutis laxa is usually a genetic disease, but acquired cases have been reported. (From Dorland, 27th ed)
A salt-soluble precursor of elastin. Lysyl oxidase is instrumental in converting it to elastin in connective tissue.
Connective tissue comprised chiefly of elastic fibers. Elastic fibers have two components: ELASTIN and MICROFIBRILS.
A group of enzymes that catalyze the reduction of 1-pyrroline carboxylate to proline in the presence of NAD(P)H. Includes both the 2-oxidoreductase (EC 1.5.1.1) and the 5-oxidoreductase (EC 1.5.1.2). The former also reduces 1-piperidine-2-carboxylate to pipecolate and the latter also reduces 1-pyrroline-3-hydroxy-5-carboxylate to hydroxyproline.
Genes that influence the PHENOTYPE only in the homozygous state.
Macromolecular organic compounds that contain carbon, hydrogen, oxygen, nitrogen, and usually, sulfur. These macromolecules (proteins) form an intricate meshwork in which cells are embedded to construct tissues. Variations in the relative types of macromolecules and their organization determine the type of extracellular matrix, each adapted to the functional requirements of the tissue. The two main classes of macromolecules that form the extracellular matrix are: glycosaminoglycans, usually linked to proteins (proteoglycans), and fibrous proteins (e.g., COLLAGEN; ELASTIN; FIBRONECTINS; and LAMININ).
Mucoid states characterized by the elevated deposition and accumulation of mucin (mucopolysaccharides) in dermal tissue. The fibroblasts are responsible for the production of acid mucopolysaccharides (GLYCOSAMINOGLYCANS) in the ground substance of the connective tissue system. When fibroblasts produce abnormally large quantities of mucopolysaccharides as hyaluronic acid, chondroitin sulfate, or heparin, they accumulate in large amounts in the dermis.
A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
The magnitude of INBREEDING in humans.
A characteristic symptom complex.
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.
The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)
A pyridoxal phosphate enzyme that catalyzes the formation of glutamate gamma-semialdehyde and an L-amino acid from L-ornithine and a 2-keto-acid. EC 2.6.1.13.
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)
A rare amino acid found in elastin, formed by condensation of four molecules of lysine into a pyridinium ring.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
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.
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.
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.
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).
A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides.
A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of SKIN; CONNECTIVE TISSUE; and the organic substance of bones (BONE AND BONES) and teeth (TOOTH).
A fibrillar collagen consisting of three identical alpha1(III) chains that is widely distributed in many tissues containing COLLAGEN TYPE I. It is particularly abundant in BLOOD VESSELS and may play a role in tissues with elastic characteristics.
Tissue that supports and binds other tissues. It consists of CONNECTIVE TISSUE CELLS embedded in a large amount of EXTRACELLULAR MATRIX.
A fibrillar collagen found widely distributed as a minor component in tissues that contain COLLAGEN TYPE I and COLLAGEN TYPE III. It is a heterotrimeric molecule composed of alpha1(V), alpha2(V) and alpha3(V) subunits. Several forms of collagen type V exist depending upon the composition of the subunits that form the trimer.
A mixed-function oxygenase that catalyzes the hydroxylation of peptidyllysine, usually in protocollagen, to peptidylhydroxylysine. The enzyme utilizes molecular oxygen with concomitant oxidative decarboxylation of the cosubstrate 2-oxoglutarate to succinate. EC 1.14.11.4.
A bibliographic database that includes MEDLINE as its primary subset. It is produced by the National Center for Biotechnology Information (NCBI), part of the NATIONAL LIBRARY OF MEDICINE. PubMed, which is searchable through NLM's Web site, also includes access to additional citations to selected life sciences journals not in MEDLINE, and links to other resources such as the full-text of articles at participating publishers' Web sites, NCBI's molecular biology databases, and PubMed Central.
Analog or digital communications device in which the user has a wireless connection from a telephone to a nearby transmitter. It is termed cellular because the service area is divided into multiple "cells." As the user moves from one cell area to another, the call is transferred to the local transmitter.
A layer of vascularized connective tissue underneath the EPIDERMIS. The surface of the dermis contains innervated papillae. Embedded in or beneath the dermis are SWEAT GLANDS; HAIR FOLLICLES; and SEBACEOUS GLANDS.
A CCN protein family member that regulates a variety of extracellular functions including CELL ADHESION; CELL MIGRATION; and EXTRACELLULAR MATRIX synthesis. It is found in hypertrophic CHONDROCYTES where it may play a role in CHONDROGENESIS and endochondral ossification.
Computer programs or software installed on mobile electronic devices which support a wide range of functions and uses which include television, telephone, video, music, word processing, and Internet service.
A sequence of successive nucleotide triplets that are read as CODONS specifying AMINO ACIDS and begin with an INITIATOR CODON and end with a stop codon (CODON, TERMINATOR).
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.
Post-transcriptional biological modification of messenger, transfer, or ribosomal RNAs or their precursors. It includes cleavage, methylation, thiolation, isopentenylation, pseudouridine formation, conformational changes, and association with ribosomal protein.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
A fetal blood vessel connecting the pulmonary artery with the descending aorta.
Pathological outpouching or sac-like dilatation in the wall of any blood vessel (ARTERIES or VEINS) or the heart (HEART ANEURYSM). It indicates a thin and weakened area in the wall which may later rupture. Aneurysms are classified by location, etiology, or other characteristics.
A congenital heart defect characterized by the persistent opening of fetal DUCTUS ARTERIOSUS that connects the PULMONARY ARTERY to the descending aorta (AORTA, DESCENDING) allowing unoxygenated blood to bypass the lung and flow to the PLACENTA. Normally, the ductus is closed shortly after birth.
Locomotor behavior not involving a steering reaction, but in which there may be a turning random in direction. It includes orthokinesis, the rate of movement and klinokinesis, the amount of turning, which are related to the intensity of stimulation.
NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.
Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.
A non-fibrillar collagen involved in anchoring the epidermal BASEMENT MEMBRANE to underlying tissue. It is a homotrimer comprised of C-terminal and N-terminal globular domains connected by a central triple-helical region.
Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.
A medical specialty concerned with the skin, its structure, functions, diseases, and treatment.
A familial, cerebral arteriopathy mapped to chromosome 19q12, and characterized by the presence of granular deposits in small CEREBRAL ARTERIES producing ischemic STROKE; PSEUDOBULBAR PALSY; and multiple subcortical infarcts (CEREBRAL INFARCTION). CADASIL is an acronym for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. CADASIL differs from BINSWANGER DISEASE by the presence of MIGRAINE WITH AURA and usually by the lack of history of arterial HYPERTENSION. (From Bradley et al, Neurology in Clinical Practice, 2000, p1146)
The condition of an anatomical structure's being dilated beyond normal dimensions.
A surgical specialty concerned with the study, diagnosis, and treatment of diseases of the urinary tract in both sexes, and the genital tract in the male. Common urological problems include urinary obstruction, URINARY INCONTINENCE, infections, and UROGENITAL NEOPLASMS.
A subspecialty of internal medicine concerned with the anatomy, physiology, and pathology of the kidney.
Hospital department responsible for the administration and provision of diagnostic and therapeutic services for the urologic patient.
Surgery performed on the urinary tract or its parts in the male or female. For surgery of the male genitalia, UROLOGIC SURGICAL PROCEDURES, MALE is available.
Disorders such as cutis laxa and Williams syndrome are associated with deficient or absent elastin fibers in the ECM. In 2016, ... and these tissues contain high amounts of elastins. Elastins are synthesized by fibroblasts and smooth muscle cells. Elastins ... This property is primarily dependent on collagen and elastin concentrations, and it has recently been shown to play an ... Tropoelastins are then deaminated to become incorporated into the elastin strand. ...
Cutis laxa and Williams syndrome have elastic matrix defects that have been directly associated with alterations in the elastin ... Maintenance of crosslinked elastin is carried out by a number of proteins including lysyl oxidase-like 1 protein. Mature ... Elastic fibers include elastin, elaunin and oxytalan. Elastic tissue is classified as "connective tissue proper". Elastic ... Schräder CU, Heinz A, Majovsky P, Karaman Mayack B, Brinckmann J, Sippl W, Schmelzer CE (September 2018). "Elastin is ...
"Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and ... Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, Uitto J, Chu ML (Apr 2003). "Genetic heterogeneity of cutis laxa: a ... GeneReview/NIH/UW entry on FBLN5-Related Cutis Laxa v t e. ... results in a severe form of cutis laxa". Human Molecular ... "Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype". The ...
Cutis laxa Elastic fibers Elastin receptor Resilin: an invertebrate protein Williams syndrome Mithieux, SM; Weiss, AS (2005). " ... "A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa". Archives of Dermatology. 140 (9): 1135-9 ... and the autosomal dominant cutis laxa. Other associated defects in elastin include Marfan syndrome, emphysema caused by α1- ... Elastin helps skin to return to its original position when it is poked or pinched. Elastin is also an important load-bearing ...
... is associated with deficient or absent elastin fibers in the extracellular matrix. This can be related to decreased ... Cutis Laxa, Autosomal Recessive, Type II - 219200 Online Mendelian Inheritance in Man (OMIM): Cutis Laxa, X-Linked - 304150 ... fold increase in elastase activity in a patient with acquired cutis laxa. As of 2019, there is no treatment for cutis laxa. ... genes can increase susceptibility of elastic fibres to inflammatory degradation in acquired cutis laxa. Acquired cutis laxa has ...
2004). «A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa». Arch Dermatol. 140 (9): 1135-9. ... Rosenbloom J (1984). «Elastin: relation of protein and gene structure to disease». Lab. Invest. 51 (6): 605-23. PMID 6150137. ... 2009). «Soluble elastin decreases in the progress of atheroma formation in human aorta». Circ. J. 73 (11): 2154-62. PMID ... Tzaphlidou M (2004). «The role of collagen and elastin in aged skin: an image processing approach». Micron. 35 (3): 173-7. PMID ...
... and the autosomal dominant cutis laxa.[4] Other associated defects in elastin include Marfan syndrome, emphysema caused by α1- ... "A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa". Archives of Dermatology. 140 (9): 1135-9 ... Elastin helps skin to return to its original position when it is poked or pinched. Elastin is also an important load-bearing ... "Elastin (ELN)". Retrieved 31 October 2011.. *^ Muiznieks LD, Weiss AS, Keeley FW (Apr 2010). "Structural disorder and dynamics ...
... or autosomal recessive cutis laxa type II (ARCL II) (another cutis laxa disorder). Some consider WSS to be a milder variant of ... The process of coacervation is thought to be essential for proper elastin assembly in the ECM. Coacervation must occur outside ... Kapoor, Seema; Goyal, Manisha; Singh, Ankur; Kornak, Uwe (2015). "The diagnostic dilemma of cutis laxa: A report of two cases ... However, the severity of skin abnormalities and facial dysmorphia is greater in cutis laxa type II. Accurate diagnosis of ...
Khakoo A, Thomas R, Trompeter R, Duffy P, Price R, Pope FM (Feb 1997). "Congenital cutis laxa and lysyl oxidase deficiency". ... Lysyl oxidase has also proven crucial to the development of the respiratory system and the skin, as collagen and elastin ... This results in cross-linking collagen and elastin, which is essential for stabilization of collagen fibrils and for the ... Complex cross-links are formed in collagen (pyridinolines derived from three lysine residues) and in elastin (desmosines ...
2004). "A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa". Arch Dermatol 140 (9): 1135-9. ... Rosenbloom J (1984). "Elastin: relation of protein and gene structure to disease". Lab. Invest. 51 (6): 605-23. PMID 6150137. ... 2009). "Soluble elastin decreases in the progress of atheroma formation in human aorta". Circ. J. 73 (11): 2154-62. PMID ... Elastin je sastavna komponenta ekstracelularnog matriksa. Mnoga tkiva i organi u organizmu zahtevaju da budu jaki i ujedno ...
"Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate ... In PXE, there is mineralization (accumulation of calcium and other minerals) and fragmentation of the elastin-containing fibers ...
... ... We have explored elastin metabolism in a case of adult onset cutis laxa localized to the upper body of a woman. For this ... Cutis laxa is a rare disease characterized by abnormal skin wrinkling and laxity, due to decreased elastin synthesis or ... In conclusion, we report a case of acquired localized cutis laxa with a lack of elastic fibers in the skin of the patients ...
Cutis laxa is associated with deficient or absent elastin fibers in the extracellular matrix. This can be related to decreased ... Cutis Laxa, Autosomal Recessive, Type II - 219200 Online Mendelian Inheritance in Man (OMIM): Cutis Laxa, X-Linked - 304150 ... fold increase in elastase activity in a patient with acquired cutis laxa. As of 2019, there is no treatment for cutis laxa. ... genes can increase susceptibility of elastic fibres to inflammatory degradation in acquired cutis laxa. Acquired cutis laxa has ...
... and the autosomal dominant cutis laxa.[4] Other associated defects in elastin include Marfan syndrome, emphysema caused by α1- ... "A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa". Archives of Dermatology. 140 (9): 1135-9 ... Elastin helps skin to return to its original position when it is poked or pinched. Elastin is also an important load-bearing ... "Elastin (ELN)". Retrieved 31 October 2011.. *^ Muiznieks LD, Weiss AS, Keeley FW (Apr 2010). "Structural disorder and dynamics ...
A novel elastin gene mutation in a Vietnamese patient with cutis laxa. ... Mutations in PYCR1 cause cutis laxa with progeroid features.. Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC ... Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 ... Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.. Dimopoulou A, Fischer B, Gardeitchik T, Schröter ...
Cutis laxa is a disorder of connective tissue, which is the tissue that forms the bodys supportive framework. Explore symptoms ... The major component of elastic fibers, a protein called elastin, is produced from the ELN gene. Other proteins involved in ... Cutis laxa can be caused by variants (also known as mutations) in several genes. Autosomal dominant cutis laxa (ADCL), the most ... This summary primarily describes inherited forms of cutis laxa. The term "cutis laxa" is Latin for loose or lax skin, and this ...
Cutis laxa is a disorder of connective tissue, which is the tissue that provides structure and strength to the muscles, joints ... The major component of elastic fibers, a protein called elastin, is produced from the ELN gene. Other proteins involved in ... Cutis laxa can be caused by variants (also known as mutations) in several genes. Autosomal dominant cutis laxa (ADCL), the most ... This summary primarily describes inherited forms of cutis laxa. The term "cutis laxa" is Latin for loose or lax skin, and this ...
In most patients, frameshift mutations are found in the 3 region of the elastin gene (exons 30-34) which result in a C- ... Autosomal dominant cutis laxa (ADCL) is a rare disorder that presents with lax skin, typical facial characteristics, inguinal ... Molecular analysis showed C-terminal frameshift mutations in exon 30, 32, and 34 of the elastin gene and identified a ... Elastin gene mutations have been associated with a variety of phenotypes. ...
A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report. January 31, 2019 ...
Abnormalities of elastin have been associated with other connective-tissue disorders such as cutis laxa. Deletion of the ... Elastins, in contrast to the structural support of collagens, give elasticity to the tissues. Elastin allows for the tissues to ... Tschernogobow A. Ein fall von cutis laxa. Jahresber Ges Med. 1892. 27:562. ... Elastin and other structural proteins are woven onto the microfibrillar array to provide the basic meshwork for the connective- ...
... of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Cutis laxa ... in the elastin gene. (ELN; 7q11.1-q21.1) have been reported in some cases, whereas mutations in the gene encoding fibulin-5 ( ... Cutis Laxa Research Study University of Pittsburgh Dept. of Human Genetics A300 Crabtree Hall, GSPH 130 De Soto Street ... The Cutis Laxa Research Study is an ongoing project coordinated by the University of Pittsburgh. Their research focuses on ...
In cutis laxa, for example, elastin fibers are deficient or completely lacking, leading to sagging of the skin. Solar ... In cutis laxa, for example, elastin fibers are deficient or completely lacking, leading to sagging of the skin. Solar ... Deregulation of versican and elastin binding protein in solar elastosis.. *The role of collagen and elastin in aged skin: an ... Age-associated alterations in collagen and elastin.. *The role of elastin and collagen in cutaneous aging: intrinsic aging ...
Rabbit polyclonal alpha Elastin antibody. Validated in WB, IP, ELISA, IHC, ICC and tested in Mouse, Rabbit, Cow, Dog, Human. ... Defects in ELN are the cause of cutis laxa, autosomal dominant, type 1 (ADCL1) [MIM:123700]. A connective tissue disorder ... Signal Transduction Cytoskeleton / ECM Extracellular Matrix ECM Proteins Elastin Share by email ... Elastin is formed through the cross-linking of its soluble precursor tropoelastin. Cross-linking is initiated through the ...
Rabbit polyclonal alpha Elastin antibody. Validated in WB, IP, ELISA, IHC, ICC and tested in Mouse, Rabbit, Cow, Dog, Human. ... Defects in ELN are the cause of cutis laxa, autosomal dominant, type 1 (ADCL1) [MIM:123700]. A connective tissue disorder ... Signal Transduction Cytoskeleton / ECM Extracellular Matrix ECM Proteins Elastin Share by email ... Primary - Rabbit Anti-alpha Elastin antibody (ab21607) ICC, ELISA, WB, IP, IHC-FoFr, IHC-P ...
"Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and ... M. C. Wong, G. A. Georgeu, E. M. Sassoon, and T. J. ONeill, "A case report of cutis laxa in one of identical twins," Aesthetic ... Clinical Presentation of a Patient with Localized Acquired Cutis Laxa of Abdomen: A Case Report. Tugomir Gverić,1 Marko Barić,1 ... Cutis laxa (CL) is a rare disorder of elastic tissue characterized by loose, sagging skin with reduced elasticity, and ...
Cutis laxa is due to abnormal elastin metabolism[3] resulting in decreased dermal elastin component. It may be associated with ... Acquired cutis laxa may develop at any age but often begins in adulthood. The causes of cutis laxa are variable but most point ... Cutis laxa affects all races and both the sexes equally. We report the first ever case of cutis laxa associated with multiple ... Congenital cutis laxa is more common than acquired cutis laxa. The recessively inherited form is severe and more frequent.[1] ...
1999) Cutis laxa arising from frame shift mutations in exon 30 of the elastin gene (ELN). J. Biol. Chem. 274:981-986. ... 1995) Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin ... end of exon 30 of the human tropoelastin gene in several individuals of two families with inherited cutis laxa (72), an elastin ... The cutis laxa mutation may alter this secondary interaction leading to the observed changes in tropoelastin mRNA turnover (72 ...
2004). «A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa». Arch Dermatol. 140 (9): 1135-9. ... Rosenbloom J (1984). «Elastin: relation of protein and gene structure to disease». Lab. Invest. 51 (6): 605-23. PMID 6150137. ... 2009). «Soluble elastin decreases in the progress of atheroma formation in human aorta». Circ. J. 73 (11): 2154-62. PMID ... Tzaphlidou M (2004). «The role of collagen and elastin in aged skin: an image processing approach». Micron. 35 (3): 173-7. PMID ...
Genodermatoses: Differential diagnosis of cutaneous elastin disorders: Cutis Laxa vs. pseudoxanthoma elasticum, Jouni Uitto ... Bullous leukemia cutis in a patient with T-cell prolymphocytic leukemia, Sarah Y. Siu; Qiujie Jiang; Ashley Gochoco; Jason B. ...
... elastin) gene that cause mild cutis laxa and early onset COPD.6 7 The ELN gene maps to 7q11.23 in man but, as chromosome 7 has ... Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet 2002;11:2113-8. ... Congenital cutis laxa with a dominant inheritance and early onset emphysema. Thorax 1994;49:836-7. ... Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. J Invest ...
Compare and order Elastin ELISA Kits. View citations, images, detection ranges, sensitivity, prices and more. Recommended ... Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa ... Search Elastin ELISA Kits for other reactivities: Goat,. Guinea Pig,. Pig (Porcine),. Sheep (Ovine),. Cow (Bovine),. Chicken,. ... Elastin Microfibril Interfacer 2 ELISA Kits * ELAV (Embryonic Lethal, Abnormal Vision, Drosophila)-Like 1 (Hu Antigen R) ELISA ...
Compare and order Elastin ELISA Kits. View citations, images, detection ranges, sensitivity, prices and more. Recommended ... Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa ... Search Elastin ELISA Kits for other reactivities: Goat,. Guinea Pig,. Pig (Porcine),. Sheep (Ovine),. Cow (Bovine),. Chicken,. ... Images for product: Elastin (ELN) ELISA Kit Diagramm of the ELISA kit to detect Rat ELNwith the optical density on the x-axis ...
... cutis laxa) and result in greater tissue elasticity, which includes more collagen converted to elastin (Dasouki et al. 2007). ... and mild cutis laxa. Am J Med Genet A 143A(22):2635-2641PubMedCrossRefGoogle Scholar ... which is necessary for the proper incorporation of elastin into extracellular matrix, may be a factor in old age for weakening ...
The phenotype included a variable combination of cutis laxa (52%), long philtrum-thin vermillion (90%), micrognathia (43%), ... and hereditary cutis laxa syndromes (elastin and fibulin-4 and 5) (ADCL1 and ARCL1A; MIM #123700, 219100). However, some of the ... B :Cutis laxa with redundant axillary skin folds (arrows). C : Chest roentgenogram (Antero-posterior view) - aortic enlargement ... 9] identified a missense mutation (c.169 G , A; p.E57K)in FBLN4 in a child with multiple fractures, cutis laxa, vascular ...
Cutis laxa, an inherited disorder of elastin that causes generalized elastolysis, is also a condition associated with abnormal ... It may encompass systemic disruption in elastin, affording a poor prognosis, or presentation may be confined to the skin, with ...
... and elastin mutations cause Williams syndrome, supravalvular stenosis (SVAS) and cutis laxa ( Tassabehji et al., 1998). ... Studies of elastin-null mice have confirmed that elastin is an essential determinant of arterial morphogenesis ( Li et al., ... Elastin and fibrillin self-assembly. Under appropriate in vitro conditions of temperature and ionic strength, elastin undergoes ... It is also not clear whether elastin-associated microfibrils differ from those that do not associate with elastin. New insights ...
Cutis Laxa, Autosomal Dominant 1 Cutis Laxa, Autosomal Recessive, Type Ia Cutis Laxa, Autosomal Recessive, Type Iiia Cutis Laxa ... Cutis Laxa, Autosomal Dominant 2 Cutis Laxa, Autosomal Recessive, Type Ib Cutis Laxa, Autosomal Recessive, Type Iiib Cutis Laxa ... Acquired Cutis Laxa Autosomal Recessive Cutis Laxa Type 2 Diseases related to Cutis Laxa, Autosomal Recessive, Type Iia via ... Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma ...
All types of cutis laxa are characterized by alterations in the elastin fibers, regardless of the underlying molecular cause. ... Are you sure your patient has cutis laxa? What are the typical findings for this disease?. Cutis Laxa is a hereditary disorder ... If you are able to confirm that the patient has cutis laxa, what treatment should be initiated?. *. Cutis laxa - may require ... Also called cutis laxa with corneal clouding and mental retardation. Clinical features include cutis laxa with thin, ...
Biomechanical properties of the skin in cutis laxa.. Kozel BA, Su CT, Danback JR, Minster RL, Madan-Khetarpal S, McConnell JS, ... Those with SVAS have genetic mutations affecting only elastin. With only one good copy of the elastin gene, persons with WS and ... As its name implies, elastin is an elastic protein - it helps blood vessels as well as other tissues in the body stretch and ... Individuals with WS are missing one copy of 26 to 28 genes, including the elastin gene - usually there are two copies of each ...
Generalized cutis laxa and Ehlers-Danlos syndrome may have a similar appearance, but are easily distinguished due to other ... we performed RT-PCR to analyze the mRNA expression of elastin, a major component of elastic fiber. Elastin mRNA expression in ... Localized cutis laxa, floppy eyelid syndrome, contact dermatitis, ST1571, Gleevec) toxicity (1) Blepharochalasis Syndrome ... cutis laxa, elastic fibres, fibronectin, IgA deposits, periorbital oedema, Blepharoplasty, Lateral canthoplasty, Dermis fat ...
  • The connective tissue of the skin is composed mostly of collagen and elastin. (unboundmedicine.com)
  • In several hereditary disorders collagen or elastin are deficient, leading to accelerated aging. (unboundmedicine.com)
  • A1 - Oikarinen,A, PY - 1994/4/1/pubmed PY - 1994/4/1/medline PY - 1994/4/1/entrez SP - 47 EP - 52 JF - Photodermatology, photoimmunology & photomedicine JO - Photodermatol Photoimmunol Photomed VL - 10 IS - 2 N2 - The connective tissue of the skin is composed mostly of collagen and elastin. (unboundmedicine.com)
  • Recently, the elastin gene and some collagen genes involved in connective tissue disease were excluded as candidate genes in ATS. (bmj.com)
  • 5 Genetically-engineered mice provide further evidence that the vascular ECM is the critical determinant of aneurysm development, including an allelic series of Fbn1 mutant mice, and mice homozygous for null alleles of the genes encoding lysyl oxidase, a crosslinking enzyme for elastin and collagen, and ECM proteins such as fibulin-4 ( Fbln4 ) and biglycan ( Bgn ). (ahajournals.org)
  • The authors describe a patient who presented from birth on a severe involvement of connective tissues with pathological fractures, lack of auricular cartilage, hyperlaxity of fingers and cutis laxa with deep folds, all suggestive of derangements of collagen and elastin. (lu.se)
  • The suspected mechanism is an elastin or collagen polymer cross linking deficiency. (bmj.com)
  • Skin histological morphological examination showed disorganisation of the elastic fibres of the ECM (fig 1A, B). Immunohistological analysis found a decrease of elastin and collagen I immunodetection. (bmj.com)
  • Connective tissue is comprised of 2 major protein compounds, collagen and elastin. (frenchhairacademy.com)
  • Using optical/electron microscopy on skin biopsy, we show collagen/elastin fiber alterations that may contribute to connective tissue laxity and are compatible with our angio-MRI finding of kinky brain vessels in the patient. (uzh.ch)
  • During aging, the collagen family, elastin and Hyaluronic Acid will constantly lose and lower the activity of fibroblast. (yuanangroup.com.tw)
  • Of course, we can't add those materials through ordinary ways, we can only use ingredient which can help increase the synthesis of collagen and elastin family to regenerate your skin. (yuanangroup.com.tw)
  • Alterations of collagen, which often exist in concert with deficient elastin and ground substance, are present in a diverse group of diseases manifesting in some individuals as sclerosis, including scleroderma and a number of diseases that produce changes histologically indistinguishable from scleroderma (ie, sclerodermoid disorders such as chronic graft-versus-host disease). (mhmedical.com)
  • Four types of macromolecules can be distinguished in the ECM: collagen, elastin, glycoproteins and proteoglycans. (hindawi.com)
  • Based on the two major constituents of the connective tissue, collagen and elastin, these disorders can be divided into "collagenopathies" and "elastinopathies" [ 5 , 6 ]. (hindawi.com)
  • The cutometer measurements showed a statistically significant higher level of skin firmness (due to increased collagen production) and a statistically significant increase in skin elasticity (thanks to increased elastin production). (cureus.com)
  • Crawford SW, Featherstone JA, Holbrook K, Yong SL, Bornstein P, Veer H (1985) Characterization of a Twblets VI collagen-related Mr-140 000 protein from cutis-laxa fibroblasts in childhood. (raisrf.ru)
  • 3 Aging of skin has been shown to be accelerated by glycation of collagen and elastin. (practicaldermatology.com)
  • While collagen is the protein that gives the skin its structure, elastin is the protein that provides elasticity. (amandean.com)
  • What causes damage to collagen and elastin? (amandean.com)
  • A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides. (leo.org)
  • Tracheobronchomegaly (Mounier-Kuhn syndrome) - Congenital disorder of elastic and smooth muscle of trachea, associated with Ehlers-Danlos (collagen synthesis) and cutis laxa (elastic tissue). (radnotes.co.nz)
  • Another syndrome associated with cutis laxa is Lenz-Majewski syndrome which is due to a mutation in the phosphatidylserine synthase 1 (PTDSS1) gene. (wikipedia.org)
  • In humans, elastin is encoded by the ELN gene . (wikipedia.org)
  • Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and the autosomal dominant cutis laxa . (wikipedia.org)
  • Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2. (nih.gov)
  • Cutis laxa type II with mutation in the pyrroline-5-carboxylate reductase 1 gene. (nih.gov)
  • Autosomal dominant cutis laxa (ADCL), the most common form of the disorder, is primarily caused by variants in the ELN gene. (medlineplus.gov)
  • Autosomal recessive cutis laxa (ARCL) can be caused by variants in the FBLN5 , EFEMP2 , LTBP4 , ATP6V0A2 , PYCR1 , or ALDH18A1 gene. (medlineplus.gov)
  • The major component of elastic fibers, a protein called elastin, is produced from the ELN gene. (medlineplus.gov)
  • Elastin gene mutations have been associated with a variety of phenotypes. (biomedcentral.com)
  • In most patients, frameshift mutations are found in the 3' region of the elastin gene (exons 30-34) which result in a C-terminally extended protein, though exceptions have been reported. (biomedcentral.com)
  • Molecular analysis showed C-terminal frameshift mutations in exon 30, 32, and 34 of the elastin gene and identified a mutational hotspot in exon 32 (c.2262delA). (biomedcentral.com)
  • Elastin gene ( ELN ) mutations have been associated with various skin, cardiovascular and pulmonary phenotypes. (biomedcentral.com)
  • To date, frameshift mutations in the 3'UTR of the elastin gene have been identified in 11 probands with ADCL, but it remains a matter of debate whether other molecular mechanisms could be involved. (biomedcentral.com)
  • Finally, a case report mentions causal involvement of the ELN gene in a recessive form of cutis laxa due to a p. (biomedcentral.com)
  • A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report. (medscape.com)
  • Elastin gene study of infants with isolated congenital ductus arteriosus aneurysm. (wikipedia.org)
  • If autosomal dominant cutis laxa is suspected clinically, molecular testing (gene sequencing) is performed to look for mutations in FBLN5 or ELN. (renalandurologynews.com)
  • Individuals with WS are missing one copy of 26 to 28 genes, including the elastin gene - usually there are two copies of each of these genes. (nih.gov)
  • With only one good copy of the elastin gene, persons with WS and SVAS make inadequate quantities of elastin, which predisposes them to stiff blood vessels that are prone to stenosis (or vessel narrowing), restricting blood flow. (nih.gov)
  • The variability of the clinical signs of WS suggests that other genes work with the elastin gene in determining disease severity. (nih.gov)
  • 12 An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. (malacards.org)
  • Sequencing of the elastin, fibulin-4 and fibulin-5 genes revealed a homozygous missense mutation (p.Cys267Tyr) in the fibulin-4 gene in the patient. (uzh.ch)
  • A gene on chromosome 7q11.23 that encodes elastin, one of the two proteins in elastic fibres. (thefreedictionary.com)
  • Some patients with isolated SVAS have a mutation in the elastin gene, one of the genes deleted in WS. (clinicaladvisor.com)
  • Williams syndrome is caused by a deletion of chromosome 7q11.2, which involves the Williams-Beuren syndrome critical region (WBSCR) that encompasses the elastin gene. (clinicaladvisor.com)
  • The genetic defect of ARCL-II is presently unknown while ADCL is caused by frameshift mutations at the 3' end of the elastin gene ( ELN on chrom. (geneskin.org)
  • Autosomal dominant cutis laxa can be caused by mutations in the elastin gene. (oup.com)
  • Mutations in the gene encoding fibulin-5 can cause either autosomal dominant or autosomal recessive cutis laxa and the latter may also arise through mutation in fibulin-4 or in a subunit of the V-type ATPase. (oup.com)
  • The elastin gene (ELN) is implicated as a factor in both supravalvular aortic stenosis (SVAS) and Williams Beuren Syndrome (WBS), two diseases involving pronounced complications in mental or physical development. (biomedcentral.com)
  • Exonic SNPs in the elastin gene do not appear to be common risk factors for severe COPD. (cdc.gov)
  • An important gene associated with Mid-Dermal Elastolysis is ELN (Elastin), and among its related pathways/superpathways are Degradation of the extracellular matrix and Matrix Metalloproteinases . (malacards.org)
  • Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). (nih.gov)
  • Hatamochi A, Mori K, Arakawa M, Ueki H, Kondo M (1996) Collagenase ruby dump in cutis laxa Discount Erectalis Tablets Phoenix is upregulated by transcriptional identity of the adaptor gene through a 12-0-tetradecanoyl- phorbol-13-acetate (TPA)-responsive siss. (raisrf.ru)
  • The X-linked form of cutis laxa is often called occipital horn syndrome. (medlineplus.gov)
  • ADCL is considered to be a mild form of cutis laxa with limited systemic involvement although associated features may include hernias, cardiac valve anomalies (redundant mitral and tricuspid valves), cardiovascular manifestations (pulmonary stenosis and aortic and arterial dilatation and tortuosity), gastrointestinal diverticuli and emphysema. (nih.gov)
  • These findings indicate that elastin synthesis was increased but did not lead to deposited elastic fibers in the tissue. (ku.dk)
  • Cutis Laxa is a hereditary disorder of connective tissue typified by wrinkled, furrowed skin and multiple non-cutaneous manifestations. (renalandurologynews.com)
  • Hereditary cutis laxa refers to a heterogeneous group of connective tissue disorders characterized by cutaneous abnormalities and variable systemic manifestations. (abcam.cn)
  • Hereditary cutis laxa is inherited in both autosomal dominant and autosomal recessive modes. (abcam.cn)
  • The lack of elastic fibers in the affected skin was combined with increased mRNA expression and protein levels of elastin. (ku.dk)
  • Elastin is a highly elastic protein in connective tissue and allows many tissues in the body to resume their shape after stretching or contracting. (wikipedia.org)
  • Elastin is made by linking together many small soluble precursor tropoelastin protein molecules (50-70 kDa ), to make the final massive insoluble, durable complex. (wikipedia.org)
  • Elastin is a key protein of the extracellular matrix. (wikipedia.org)
  • Elastin is a very long-lived protein, with a half-life of over 78 years in humans. (wikipedia.org)
  • Full length native protein (insoluble alpha elastin purified from human aorta by hot sodium hydroxide). (abcam.com)
  • Elastin is a resilient connective tissue protein present in the extracellular matrix of most terrestrial vertebrate tissues but, because of its unique elastomeric properties, it is especially abundant in the interstitium of tissues that undergo repeated physical deformations, such as lungs, blood vessels, and skin ( 43 ). (asm.org)
  • Elastin itself is a polymer of enzymatically cross-linked tropoelastin monomers, the secreted, soluble precursor protein, and constitutes ca. 90% of the mass of elastic fibers. (asm.org)
  • As its name implies, elastin is an elastic protein - it helps blood vessels as well as other tissues in the body stretch and recoil. (nih.gov)
  • Elastin is a highly hydrophobic protein that plays a major role providing the property of elastic recoil in dermis, lungs, and blood vessels. (biomedcentral.com)
  • Elastin-derived peptides upregulate matrix metalloproteinase-2-mediated melanoma cell invasion through elastin-binding protein. (semanticscholar.org)
  • In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. (abcam.cn)
  • Tropoelastin/elastin protein expression was first detectable in leaflets of 7-week hearts. (biologists.org)
  • Elastin is a non-soluble, extremely durable protein. (biologists.org)
  • Yanagisawa H, Davis EC, Starcher BC, Ouchi T, Yanagisawa M, Richardson JA and Olson EN: Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo. (spandidos-publications.com)
  • Elastin is a protein that is a vital component of skin and other connective tissues throughout the body. (nih.gov)
  • It has also been considered that mutations in elastin (ELN) and fibulin-5 (FBLN5) genes can increase susceptibility of elastic fibres to inflammatory degradation in acquired cutis laxa. (wikipedia.org)
  • The unlinked tropoelastin molecules are not normally available in the cell, since they become crosslinked into elastin fibres immediately after their synthesis by the cell and during their export into the extracellular matrix . (wikipedia.org)
  • To make mature elastin fibres, the tropoelastin molecules are cross-linked via their lysine residues with desmosine and isodesmosine cross-linking molecules. (wikipedia.org)
  • Cutis laxa is a rare disorder characterized by degenerative changes in elastic fibres. (bioline.org.br)
  • There is very strong evidence that the integrity of the extracellular matrix, and in particular the elastin fibres, are important in the pathogenesis of COPD. (bmj.com)
  • Elastic fibres are essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils. (biologists.org)
  • Genesis of elastic fibres in early development involves deposition of tropoelastin (the soluble precursor of mature elastin) on a preformed template of fibrillin-rich microfibrils (Figs 1 , 2 ) ( Mecham and Davis, 1994 ). (biologists.org)
  • Mature elastic fibres are thus a composite biomaterial comprising an outer microfibrillar mantle and an inner core of amorphous crosslinked elastin. (biologists.org)
  • Cutis laxa is a rare disease characterized by abnormal skin wrinkling and laxity, due to decreased elastin synthesis or structural extracellular matrix defects. (ku.dk)
  • Cutis laxa is associated with deficient or absent elastin fibers in the extracellular matrix. (wikipedia.org)
  • This can be related to decreased elastin synthesis or structural defects in the extracellular matrix. (wikipedia.org)
  • Like other structural extracellular matrix proteins, the bulk of elastin production is limited to a narrow window of development. (asm.org)
  • We evaluated the expression of several extracellular matrix constituents implicated in the synthesis and reticulation of elastin in human pterygium, according to age and sex of the patients. (arvojournals.org)
  • Several extracellular matrix constituents, LOXs, FBN1, and FBLN5, implicated in the development of elastin, are overexpressed in the subepithelial connective tissue extracellular matrix of human pterygium, supporting our hypothesis that elastic synthesis and reticulation is dysregulated in this type of pathology. (arvojournals.org)
  • Based on these results we hypothesize that cutis laxa is caused by the disruption of EF biogenesis at multiple levels leading to both structural disruption of elastic fibers and by altered storage and release of TGFb in the extracellular matrix. (grantome.com)
  • In aim 2, we will use in vitro models of EF assembly to identify the sequence of molecular interactions between extracellular matrix molecules impacted by cutis laxa mutations. (grantome.com)
  • Despite the fact that elastin and elastic fibers are pivotal for normal cardiac development and function, the majority of research efforts have not been focused on the impact of the extracellular matrix (ECM) on organogenesis or pathological remodeling processes. (biologists.org)
  • Skin from the affected area lacked elastin fibers in electron microscopy but had higher mRNA expression of elastin and total RNA. (ku.dk)
  • In conclusion, we report a case of acquired localized cutis laxa with a lack of elastic fibers in the skin of the patient's upper body. (ku.dk)
  • Many of the genes associated with autosomal dominant and autosomal recessive forms of cutis laxa are involved in the formation and function of elastic fibers, which are slender bundles of proteins that provide strength and flexibility to connective tissue throughout the body. (medlineplus.gov)
  • Other proteins involved in cutis laxa that have critical roles in the assembly of elastic fibers are produced from the EFEMP2 , FBLN5 , LTBP4 , and ATP6V0A2 genes. (medlineplus.gov)
  • In cutis laxa, for example, elastin fibers are deficient or completely lacking, leading to sagging of the skin. (unboundmedicine.com)
  • Elastic fibers are assembled extracellularly and are comprised of elastin and microfibrillar proteins ( 40 ). (asm.org)
  • Light microscopy - may appear normal or show mild fragmentation absent or sparce elastin fibers. (renalandurologynews.com)
  • Electron microscopy shows sparse elastin fibers, accumulation of elastin globules. (renalandurologynews.com)
  • However, aneurysms are never seen in mice deficient for elastin, or for fibulin-5, which absence also leads to compromised elastic fibers. (ahajournals.org)
  • Mutations in Fbn1 profoundly affect the formation of microfibrils that surround an elastin core and are required for proper assembly of elastic fibers. (ahajournals.org)
  • 13 In the aorta, fibulin-5 is expressed at one magnitude higher than fibulin-4 and its absence leads to compromised elastic fibers with aggregates of elastin, but does not develop aneurysms. (ahajournals.org)
  • Cutis laxa (elastolysis): Rare connective tissue disorder of elastin fibers resulting in loose, wrinkled, hanging skin folds over entire surface of body, although often most noticeable on face. (psychiatryadvisor.com)
  • Light microscopy of a skin biopsy, using a Verhoeff-von Giesson stain for elastin, can reveal the absence or disruption of elastic fibers. (geneskin.org)
  • We investigated here the contribution of elastin-derived peptides (ED), degradation products of elastin, the main component of elastic fibers in melanoma cells invasion and MMP-1 and -2 expression. (semanticscholar.org)
  • We revealed that immature elastic fibers are organized in early human cardiovascular development and that mature elastin-containing fibers first evolve in semilunar valves when blood pressure and heartbeat accelerate. (biologists.org)
  • The majority of Dr. Kozel's work is focused on the study of two elastin insufficiency-related diseases: the neurodevelopmental condition known as Williams syndrome (WS) and isolated supravalvular aortic stenosis (SVAS), a narrowing of the aorta, the vessel that carries blood from the heart to the rest of the body. (nih.gov)
  • ELN deletions and mutations are linked to supravalvular aortic stenosis and autosomal dominant cutis laxa. (thefreedictionary.com)
  • Finally, some children are evaluated for WS when they are found to have supravalvular aortic stenosis (SVAS), and while this is indicated, SVAS can also be isolated or associated with cutis laxa (wrinkly skin). (clinicaladvisor.com)
  • Cutis laxa is a disorder of skin due to defective elastin synthesis. (bvsalud.org)
  • An altered elastin re-synthesis system may also be a causative factor of permanent elastic fiber loss in MDE. (renalandurologynews.com)
  • It is unclear what causes this increase in elastin synthesis in people affected by elastoderma. (nih.gov)
  • Those with SVAS have genetic mutations affecting only elastin. (nih.gov)
  • Additionally, WS and SVAS research might help shed light on hypertension and any other conditions associated with impaired blood flow as well as the aging process, in which elastin breaks down very slowly over time. (nih.gov)
  • Elastin is important in keeping blood vessels from becoming narrowed, and thus its absence can be associated with SVAS, renal artery stenosis, and/ or narrowing of the other vessels. (clinicaladvisor.com)
  • This summary primarily describes inherited forms of cutis laxa. (medlineplus.gov)
  • Researchers have described several different forms of cutis laxa. (medlineplus.gov)
  • In general, the autosomal recessive forms of cutis laxa tend to be more severe than the autosomal dominant forms, although some people with autosomal dominant cutis laxa are severely affected. (medlineplus.gov)
  • Moreover, in the absence of large patient cohorts, the ADCL phenotype is still insufficiently characterized and not always easy to discern from related forms of cutis laxa. (biomedcentral.com)
  • As of 2019, there is no treatment for cutis laxa. (wikipedia.org)
  • The feasibility of using recombinant human tropoelastin to enable elastin fiber production to improve skin flexibility in wounds and scarring has been studied. (wikipedia.org)
  • These findings demonstrate that posttranscriptional regulation of elastin production in mature tissue is conferred by a specific element within the open reading frame of tropoelastin mRNA. (asm.org)
  • In elastic tissues, tropoelastin is deposited on microfibril bundles, and lysyl oxidase-derived crosslinks then stabilise the elastin core. (biologists.org)
  • [2] Drugo ime za elastin je tropoelastin. (wikipedia.org)
  • Tropoelastin is the precursor molecule of elastin, which along with structures called microfibrils is the key to flexibility of tissues including skin, lungs, and blood vessels. (phys.org)
  • The study also looked at the specific changes in the tropoelastin molecule caused by mutations that are associated with known diseases, such as cutis laxa, in which the skin lacks elasticity and hangs loosely. (phys.org)
  • This diagram depicts the configuration of the complex tropoelastin molecule, which forms the basis for the elastin that gives tissues like skin and blood vessels their elasticity. (technologynetworks.com)
  • Cutis laxa can be caused by variants (also known as mutations) in several genes. (medlineplus.gov)
  • Two other genes involved in cutis laxa, ALDH18A1 and PYCR1 , provide instructions for making proteins that have important roles in cells. (medlineplus.gov)
  • Autosomal dominant cutis laxa is caused by mutations in the Elastin (ELN) or Fibulin-5 (FBLN5) genes. (renalandurologynews.com)
  • By looking under the "QTL peaks" in the data, she is identifying genes and pathways that, when combined with elastin insufficiency, change the severity of vascular disease outcome. (nih.gov)
  • Molecular genetic studies of patients with vascular anomalies, emphysema and cutis laxa show that multiple genes are required for distinct steps of the EF formation. (grantome.com)
  • These studies identified mutations in the genes for elastin, fibulin-4, fibulin-5 and the a2 subunit v- type H+ATPase, highlighting the existence of a network of molecules required for elastogenesis. (grantome.com)
  • Hatamochi A, Arakawa M, Mori K, Mori Y, Ueki H, Yoshioka H (1996) Heard expression of corrective VI sunshine genes in addition laxa fibroblasts. (raisrf.ru)
  • [4] Other associated defects in elastin include Marfan syndrome , emphysema caused by α 1 -antitrypsin deficiency, atherosclerosis , Buschke-Ollendorff syndrome , Menkes syndrome , pseudoxanthoma elasticum , and Williams syndrome . (wikipedia.org)
  • De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. (nih.gov)
  • Other rare conditions, including arterial tortuosity syndrome , geroderma osteodysplastica, and RIN2 syndrome, are sometimes classified as cutis laxa-related conditions, because affected individuals can have loose, sagging skin. (medlineplus.gov)
  • The diagnosis of a cutis laxa syndrome is primarily based on clinical assessment of the typical skin features, and the associated extracutaneous findings. (geneskin.org)
  • The inherited connective tissue diseases predominantly affecting the skin include the Ehlers-Danlos syndrome, pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis. (geneskin.org)
  • H. If elastin running low, ↳ Wrinkle skin Syndrome, Cutis laxa, Pseudoxanthoma Elasticum (PXE), Elastosis Perforans Serpiginosa (Lutz-Mieschers Syndrome), Dermatofibrosis Lenticularis (Buschke-Ollendorf Syndrome). (yuanangroup.com.tw)
  • Cutis laxa, an inherited disorder of elastin that causes generalized elastolysis, is also a condition associated with abnormal connective tissue. (clinicaladvisor.com)
  • The cell-elastin-elastase(s) interacting triade directs elastolysis. (semanticscholar.org)
  • Differential diagnoses include anetoderma, annular elastolytic giant cell granuloma, cutis laxa, and pseudoxanthoma elasticum-like papillary dermal elastolysis. (renalandurologynews.com)
  • Mid-Dermal Elastolysis is related to pseudoxanthoma elasticum-like papillary dermal elastolysis and cutis laxa . (malacards.org)
  • During childhood, some people with cutis laxa develop a life-long lung disease called emphysema, which can make it difficult to breathe. (medlineplus.gov)
  • Autosomal dominant cutis laxa (ADCL) is a rare disorder that presents with lax skin, typical facial characteristics, inguinal hernias, aortic root dilatation and pulmonary emphysema. (biomedcentral.com)
  • Autosomal recessive CL type 1 (ARCL-I) is characterized by generalized cutis laxa and pulmonary emphysema. (geneskin.org)
  • To address these hypotheses we propose (1) to investigate the genetic program of human EF formation by identifying disease-causing mutations in patients with cutis laxa, emphysema and vascular anomalies. (grantome.com)
  • It is concluded that conformational disorder is a constitutive feature of elastin structure and function. (wikipedia.org)
  • Cutis laxa is a disorder of connective tissue, which is the tissue that provides structure and strength to the muscles, joints, organs, and skin. (medlineplus.gov)
  • Cutis laxa is a rare disorder. (medlineplus.gov)
  • Cutis laxa (CL) is a rare disorder of elastic tissue characterized by loose, sagging skin with reduced elasticity, and resilience without resulting scarring. (hindawi.com)
  • Cutis laxa (synonym: dermatochalasia, dermatomegaly) (CL) is a rare connective tissue disorder caused by defects in the elastic fiber network and can affect multiple tissues, predominantly the skin [ 1 ]. (hindawi.com)
  • Congenital cutis laxa is a rare, systemic connective tissue disorder marked with skin laxity. (bioline.org.br)
  • 73 Cutis laxa, autosomal recessive, 2A: A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. (malacards.org)
  • Structural disorder and dynamics of elastin. (wikipedia.org)
  • Autosomal dominant cutis laxa is a relatively benign inherited and acquired connective tissue disorder. (abcam.cn)
  • The result of this presentation is to change the name of "Morgellons" to Skin Phenomenon of granulomatous dermatoses due to toxicity of foreign body material with sub groups of perforating disorder collangenosis, perforating folliculitis, ellastosis perforans serpiginosa, and folliculitis in cutem penetras. (morgellonsmedicalcenter.com)
  • Schwartz E, Cruickshank FA, Lebwohl MG Discount Pro-Agra 25mg Houston Elastase-like shelf and elastolytic morphologies expressed in cultured dermal fibroblasts Discount Erectalis Tablets Phoenix from lesional skin of osteoclasts with pseudoxanthoma elasticum, erroneous elastosis, and quality laxa. (raisrf.ru)
  • Congenital cutis laxa is more common than acquired cutis laxa. (bioline.org.br)
  • The influence of elastin degradation products, glucose and atorvastatin on metalloproteinase-1, -2, -9 and tissue inhibitor of metalloproteinases-1, -2, -3 expression in human retinal pigment epithelial cells. (semanticscholar.org)
  • Increased activity of elastases (matrix metalloproteinases, cathepsin G etc.) seems to result in elastin degradation. (renalandurologynews.com)
  • For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). (malacards.org)
  • 8 Genetic mutations in the FBLN4 have also been identified in two human cutis laxa patients, both of which exhibited aortic aneurysms. (ahajournals.org)
  • [email protected]#To carry out genetic diagnosis for a pedigree affected with cutis laxa. (bvsalud.org)
  • Cutis laxa is usually a genetic disease, but acquired cases have been reported. (rush.edu)
  • Acquired cutis laxa has also been seen in conjunction with a number of conditions including: rheumatoid arthritis, systemic lupus erythematosus, celiac disease, and monoclonal gammopathies. (wikipedia.org)
  • It may encompass systemic disruption in elastin, affording a poor prognosis, or presentation may be confined to the skin, with concern limited to the cosmetic appearance. (clinicaladvisor.com)
  • Cutis laxa is characterised by redundant, inelastic skin with deep wrinkling and additional variable systemic involvement. (uzh.ch)
  • Defects in FBLN5 are a cause of autosomal dominant cutis laxa (ADCL) [MIM:123700]. (abcam.cn)
  • Understanding these modifiers will allow the identification and study of new non-surgical treatments for diseases of elastin insufficiency. (nih.gov)
  • These defects in connective tissue underlie the major features of cutis laxa. (medlineplus.gov)
  • Defects in ELN are the cause of cutis laxa, autosomal dominant, type 1 (ADCL1) [MIM:123700]. (abcam.com)
  • Defects in FBLN5 are a cause of cutis laxa autosomal recessive type 1 (ARCL1) [MIM:219100]. (abcam.cn)
  • Cutis laxa is due to abnormal elastin metabolism [3] resulting in decreased dermal elastin component. (bioline.org.br)
  • 56 Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. (malacards.org)
  • Cutis laxa may also be seen in association with inherited connective tissue disorders such as Ehlers-Danlos syndromes. (wikipedia.org)
  • There is no causal therapy known for any of the cutis laxa syndromes. (geneskin.org)
  • In the body, elastin is usually associated with other proteins in connective tissues. (wikipedia.org)
  • Autosomal recessive cutis laxa is caused by mutations in FBLN4, FBLN5, ATP6V0A2, PYCR1 or LTBP4. (renalandurologynews.com)
  • There is wide variability in severity, but survival beyond the second decade is unusual in FBLN5-related cutis laxa. (renalandurologynews.com)
  • Mutations in fibulin-4 (EFEMP2) and fibulin-5 (FBLN5) were described to be causative for autosomal recessive cutis laxa type 1 in a few families each. (uzh.ch)
  • P5CS deficiency has been reported in three families, with patients presenting with cutis/joint laxity, cataracts, and neurodevelopmental delay. (uzh.ch)
  • Cutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds. (wikipedia.org)
  • Urticarial skin fibroblasts have shown a 2- to 3- fold increase in elastase activity in a patient with acquired cutis laxa. (wikipedia.org)
  • Elastin helps skin to return to its original position when it is poked or pinched. (wikipedia.org)
  • Elastin is also very important in the lungs , elastic ligaments , elastic cartilage , the skin , and the bladder . (wikipedia.org)
  • The term "cutis laxa" is Latin for loose or lax skin, and this condition is characterized by skin that is sagging and not stretchy (inelastic). (medlineplus.gov)
  • Elastin is a minor component of the dermis, but it has an important function in providing the elasticity of the skin. (unboundmedicine.com)
  • In cutis laxa, skin folds are found over entire surface of the body and can be easily corrected/flattened, whereas CVG only affects the scalp and folds cannot be corrected/flattened. (psychiatryadvisor.com)
  • Cutis laxa (CL) is a heterogeneous group of inherited connective tissue disorders characterized by loose, sagging and inelastic skin. (geneskin.org)
  • One year after the onset of the disease a skin biopsy of the anterior part of the right arm was taken for immunohistological and polymerase chain reaction (PCR) study to investigate ECM components (collagens I, III, and IV, elastin, and fibrillin-1) and cross linking enzymes (LOX and lysyl oxidase-like 1). (bmj.com)
  • It is thought to occur when there is an over-production of elastin in a specific area of skin. (nih.gov)
  • Furthermore, they may not be effective for treating the signs of skin aging or actinic elastosis, including dark rings under the eyes, a lack of volume and cutis laxa. (cureus.com)
  • Miles WO, Moses MH, Craver RD, Resurgence WK (1993) Cordless cutis laxa A abridgment synchrotron and attach of Purchase Tadora 5mg Florida skin lesions. (raisrf.ru)
  • Elastin, found in the connective tissue and skin, is what snaps our skin and body back into initial shape after stretching and contracting. (amandean.com)
  • However, cosmetic surgeries are potentially an option as cutis laxa does not generally involve vascular fragility. (wikipedia.org)
  • A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family. (nih.gov)
  • Previously, a rare functional mutation in the terminal exon of elastin was found in a case of severe, early-onset COPD. (cdc.gov)
  • A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease. (cdc.gov)
  • Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing. (nih.gov)
  • Work to date has identified a role for a certain class of enzymes called oxidases as well as inflammatory cells in magnifying the elastin insufficiency clinical signs. (nih.gov)
  • In addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, seizures, problems with movement, or eye or bone abnormalities. (medlineplus.gov)
  • Histopathological studies show abnormalities of the elastin network in the large arteries. (bmj.com)
  • Fibroblast cultures from the affected area were able to produce elastin and showed higher proliferation and survival after oxidative and UVB stress compared to fibroblasts from the unaffected area. (ku.dk)
  • C) Deposition of microfibrils and elastin by cultured bovine nuchal ligament fibroblasts. (biologists.org)
  • Hatamochi A, Wada T, Takeda K, Buy Intimax 100mg Bismarck H, Kawano S, Terada K, Morita Discount Erectalis Tablets Phoenix Purchase Sildigra Prof Columbia China supplementation in cutis laxa fibroblasts Imaged collagenase activity expression associated with cystic expression of medical I and local III harmfulness. (raisrf.ru)
  • Hatamochi A, Arakawa M, Mori K, Mori Y, Ueki H, Yoshioka H (1996) Pulverized expression of type VI sexuality Phoeinx in pregnancy laxa fibroblasts. (raisrf.ru)
  • The hydrophilic domains contain Lys-Ala (KA) and Lys-Pro (KP) motifs that are involved in crosslinking during the formation of mature elastin. (wikipedia.org)
  • Acquired cutis laxa may also be immunologically mediated, as it can involve dermal deposit of immunoglobulins and it can occur with autoimmune diseases. (wikipedia.org)
  • It is believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation. (rush.edu)
  • Elastosis is the buildup of elastin in tissues, and is a form of degenerative disease. (wikipedia.org)
  • When cutis laxa is severe, it can also affect the internal organs. (wikipedia.org)
  • Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). (nih.gov)