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*  Genetic Atypical Hemolytic-Uremic Syndrome - GeneReviews® - NCBI Bookshelf
... of genetic aHUS progresses to end-stage renal disease (ESRD). ... Genetic aHUS accounts for an estimated 60% of all aHUS. ... Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% ... are contiguous genes that occur in this relative order on chromosome 1 at 1q31-q32.1. These genes are in the regulators of ... Carrier (Heterozygote) Detection. Carrier testing for at-risk relatives requires prior identification of the pathogenic ...
  https://www.ncbi.nlm.nih.gov/books/NBK1367/
*  Race and health - Wikipedia
Single-gene disorders[edit]. See also: Genetic disorder. There are many single gene genetic disorders that differ in frequency ... "WHO - Genes and human disease".. *^ a b c Hall HI; Byers RH; Ling Q; Espinoza L (2007). "Racial/ethnic and age disparities in ... of variation occurs between large groups living on different continents.[42][43][44] Studies have found evidence of genetic ... and is useful in prevention or early detection of these diseases. For instance, a baby with sickle cell disease should be more ...
  https://en.wikipedia.org/wiki/Race_and_health
*  Hemochromatosis: Facts on Diagnosis, Diet and Treatment
An autosomal recessive disorder is different from autosomal dominant disorder in which individuals can develop disease by ... Currently, most investigators consider detection of these genes diagnoses heriditary hemochromatosis.. A C282Y homozygote is a ... disorder in which there is excessive accumulation of iron in the body (iron overload). It is a common genetic disorder among ... A C282Y heterozygote is a person who has inherited one mutated C282Y gene from one parent but a second normal HFE gene from the ...
  https://www.medicinenet.com/iron_overload/article.htm
*  Disorders of sterol synthesis
... neurodegenerative disorders, patients with MS and other brain and central nervous system disorders and diseases. ... Abnormalities in Genes Linked to IRSP in Alzheimer Disease * Alzheimer Disease Biomarkers Expose Individuals to Long-Term Care ... What caused this disease to develop at this time?. These are genetic diseases inherited in an autosomal recessive manner, with ... Although recurrent fevers occur in many systemic disorders, such as juvenile rheumatoid arthritis, malignancy, chronic ...
  https://www.neurologyadvisor.com/pediatrics/disorders-of-sterol-synthesis/article/623866/
*  Eugenics - Wikipedia
... and Gaucher's disease), has been decreased in current populations by the application of genetic screening. Pleiotropy occurs ... The heterozygote test is used for the early detection of recessive hereditary diseases, allowing for couples to determine if ... Reducing the instance of sickle-cell disease genes in Africa where malaria is a common and deadly disease could indeed have ... Prenatal diagnosis of genetic disorders and pregnancy terminations of defective fetuses. Embryo selection. Genetic engineering ...
  https://en.wikipedia.org/wiki/Eugenics
*  Interactive Fly, Drosophila
The disease has been mapped to two distinct genetic loci in humans, and although the genes (TSC1 and TSC2) for both loci have ... Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in either of the two tumor suppressor genes TSC1 or ... This is the first report indicating that mutations in TSC2 occur in tumors of patients who do not have TSC. LOH was also found ... Hyperphosphorylation of S6 is also seen in kidney tumors in the heterozygote mice, suggesting that inhibition of this pathway ...
  http://www.sdbonline.org/sites/fly/newgene/gigas2.htm
*  Free Sialic Acid Storage Disorders - GeneReviews® - NCBI Bookshelf
... intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD) ‒ are neurodegenerative disorders ... The mildest phenotype is Salla disease, which is characterized by normal appearance and neurologic findings at birth followed ... The allelic disorders of free sialic acid metabolism - Salla disease, ... Salomäki P, Aula N, Juvonen V, Renlund M, Aula P. Prenatal detection of free sialic acid storage disease: genetic and ...
  https://www.ncbi.nlm.nih.gov/books/NBK1470/
*  Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a...
Data on diagnostic methods (histopathological and/or ultrastructural; biochemical; genetic), clinical status and general ... fatal neurovisceral disorder with autosomal recessive inheritance, and featuring striking clinical variability dependent on the ... Niemann-Pick disease type C (NPC) is a rare, ... Genetic analyses of NPC genes are usually undertaken if ... However, genetic analyses were performed anyway, based on clinical intuition, and led to detection of known pathogenic NPC1 ...
  https://ojrd.biomedcentral.com/articles/10.1186/s13023-014-0140-6
*  Mutations in the Sensitive Giant Titin Result in a Broken Heart | Circulation Research
DCM occurs in 1 in 2500 individuals in the United States. The diagnosis of DCM remains wide-ranging because many insults can ... Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease. J Mol Cell Cardiol. 2009; ... This is a higher percentage than predicted for all other (,40) genes reported to be linked to DCM put together! The other ... Because DCM is a condition with significant underlying genetic etiology, it was not too surprising that TTN mutations and DCM ...
  http://circres.ahajournals.org/content/111/2/158
*  XMRV Controversy Heats Up - Two Important New Studies | Psychology Today
ALPHA-1-Antitrypsin inhibits influenza in vitro, reduces influenza disease in vivo, and genetic deficiency is a risk factor for ... Retroviruses are known to cause changes in genes, which is why the differential expression found in 88 CFS/ME genes may be the ... Detection of an Infectious Retrovirus, XMRV,. in Blood Cells of Patients with Chronic Fatigue Syndrome. [Vincent C. Lombardi - ... neurodegeneration occurs" - "detected throughout the brain stem" "whose entire structure is. usually affected by spongiform ...
  https://www.psychologytoday.com/blog/complementary-medicine/201001/xmrv-controversy-heats-two-important-new-studies
*  Skewed X-inactivation - Wikipedia
Rett Syndrome is a genetic disorder caused by a mutation of the MECP2 gene on the X chromosome. The disease occurs mostly in ... This is of medical significance due to the potential for the expression of disease genes present on the X chromosome that are ... Recently, ratio detection has moved to more direct methods by using mRNA or protein levels, and whole exome sequencing. With ... The diseased X-linked allele can cause strong selection in a heterozygote for the cells with the diseased allele on the ...
  https://en.wikipedia.org/wiki/Skewed_X-inactivation
*  Papillorenal syndrome - Wikipedia
About half of those diagnosed with the disease have an affected parent, so genetic counseling is recommended. Prenatal testing ... when inherited from a parent who has the disorder. The majority of mutations occur in exons 2,3 and 4, which encode the paired ... This suggests that other genes play a role in the development of the syndrome, though few downstream effectors of Pax2 have ... Homozygous negative Pax2 mutation is lethal, but heterozygote mutants showed many symptoms of papillorenal syndrome, including ...
  https://en.wikipedia.org/wiki/Papillorenal_syndrome
*  Cellular Radiosensitivity, Radioresistant DNA Synthesis, and Defect in Radioinduction of p53 in Fibroblasts From...
Genetic alterations leading to abnormal expression of oncogenes, tumor suppressor genes, and deregulation of cell cycle control ... a lack of G1 arrest may be interpreted to mean that either mutation occurred in exons other than 5 through 8 or in other genes ... In view of the suggestion10 that the carriers of the AT gene have an increased risk of ischemic heart disease and our findings ... Cells were harvested (using the cell-culture procedure for the detection of p53 and p21 proteins) 24 hours after irradiation ( ...
  http://atvb.ahajournals.org/content/17/5/947
*  Tay-Sachs disease - Wikipedia
Tay-Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. The most ... When disease occurs because of two unrelated mutations, the patient is said to be a compound heterozygote. Heterozygous ... Tay-Sachs disease is caused by a genetic mutation in the HEXA genes on chromosome 15. It is inherited from a person's parents ... O'Brien JS, Okada S, Chen A, Fillerup DL (1970). "Tay-Sachs disease: Detection of heterozygotes and homozygotes by serum ...
  https://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease
*  Phenylketonuria - Wikipedia
PKU is an autosomal recessive metabolic genetic disorder. As an autosomal recessive disorder, two PKU alleles are required for ... being a heterozygote is advantageous. The PAH gene is located on chromosome 12 in the bands 12q22-q24.1. More than 400 disease- ... Elevated levels of phenylalanine in the blood and detection of phenylketones in the urine is diagnostic, however most patients ... Tetrahydrobiopterin deficiency can be caused by defects in four genes. They are known as HPABH4A, HPABH4B, HPABH4C, and HPABH4D ...
  https://en.wikipedia.org/wiki/Phenylketonuria
*  Mitochondrial Neurogastrointestinal Encephalopathy Disease - GeneReviews® - NCBI Bookshelf
... disease is characterized by progressive gastrointestinal dysmotility (manifesting as early satiety, nausea, dysphagia, ... Carrier (Heterozygote) Detection. Molecular genetic testing. Carrier detection for at-risk family members requires prior ... Mutation of POLG or POLG2 (see POLG-Related Disorders), the genes encoding the two subunits of DNA polymerase gamma, which is ... Late-onset MNGIE disease occurs in individuals harboring pathogenic TYMP variants that produce less severe thymidine ...
  https://www.ncbi.nlm.nih.gov/books/NBK1179/
*  Gene Essay - avroarrow.org
721 words - 3 pages Huntington's Disease Huntington's Disease (HD) is a dominant genetic disorder. Each child of a person who ... Most melanomas - about 90 percent, are considered sporadic, meaning that the damage to the genes occurs by chance after a ... The detection of the usefulness of heterosis for plant breeding has led to the development of inbred lines that reveal a ... Also, an offspring can be compound heterozygote e.g. SC and SE among others (Weatherall, Akinyanju, Fucharoen, Olivieri, & ...
  https://www.avroarrow.org/topic/gene
*  Digital modulation | definition of digital modulation by Medical dictionary
carrier detection. in genetic terms the detection of a heterozygote which carries the gene which is under investigation. ... 2. Medicine A person or animal that shows no symptoms of a disease but harbors the infectious agent of that disease and is ... 2. A person with one normal and one affected gene (heterozygous) for a condition which is expressed only if both genes bear the ... The carrier's offspring may inherit the defect and develop the associated disorder. ...
  http://medical-dictionary.thefreedictionary.com/digital+modulation
*  Haemoglobinopathies - English
... eg Sickle Cell Disease ,/li,,/ul,,/ul,,/ul,,ul,,li,Heterozygote: Trait ,/li,,/ul,,ul,,li,Homozygote: Disease ,/li,,/ul, ... Definitions: Genetic Testing and Genetic Screening ,ul,,li,Genetic testing : providing a genetic test to someone who is thought ... 2. Haemoglobin disorders as a model ,ul,,li,An Autosomal recessive disease of global importance ,/li,,/ul,,ul,,ul,,li,,5% of ... Genes Functional Phenotype α α / α α - α / α α - α / - α -- / α α - α / -- -- / -- 4 3 2* 2* 1 0 Normal Normal MCV, MCH MCV, ...
  https://www.slideshare.net/dangthanhtuan/haemoglobinopathies
*  Testing for haemoglobinopathies in Johannesburg, South Africa: A 30-year review
There are four α-globin genes in the genome; thus mutations can occur in one, two, three or four genes, resulting in increasing ... Hemoglobinopathies: Community Clues to Mutation Detection. In: Elles R, ed. Molecular Diagnosis of Genetic Diseases. New Jersey ... Although clinically significant haemoglobinopathies are not the most common monogenic disorders in SA, they do occur at ... In one, the proband was a heterozygote for the βs mutation. Clinically, she had features suggestive of homozygosity for sickle ...
  http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742013001200040&lng=es&nrm=iso&tlng=es
*  Molecular and Mendelian Disorders | GLOWM
... known as hemoglobin H disease, or 0 functional genes, known as hemoglobin Bart's disease, which results in fetal hydrops. ... Mendelian disorders result from a mutation at a single genetic locus. A locus may be present on an autosome or on a sex ... Onset of the disease occurs most commonly between the ages of 30 and 50 years.9 ... nor does prenatal detection of the disease appear to improve outcomes for affected individuals. Rarely, an affected pregnancy ...
  http://www.glowm.com/section_view/heading/Molecular%20and%20Mendelian%20Disorders/item/223
*  von Willebrand Disease - GeneReviews® - NCBI Bookshelf
... a congenital bleeding disorder caused by deficient or defective plasma von Willebrand factor (VWF), may only become apparent on ... Carrier (Heterozygote) Detection. Carrier testing for at-risk relatives requires prior identification of the VWF pathogenic ... The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic ... Acquired von Willebrand syndrome (AVWS) is a mild-moderate bleeding disorder that can occur in a variety of conditions [Sucker ...
  https://www.ncbi.nlm.nih.gov/books/NBK7014/
*  Phenylalanine Hydroxylase Deficiency - GeneReviews® - NCBI Bookshelf
... results in intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders. ... Carrier (Heterozygote) Detection. Molecular genetic testing for at-risk relatives requires prior identification of the PAH ... disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and ... Note: The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and ...
  https://www.ncbi.nlm.nih.gov/books/NBK1504/
*  Louanne Hudgins | Stanford Medicine Profiles
Disease and risk analysis focused on prediction of genetic risk of variants associated with mendelian disease, recognised drug ... The severity of this disorder indicates the importance of early prenatal detection. In medical literature, there are a few ... They occur in association with a novel mutation and represent a novel genetic syndrome. © 2015 Wiley Periodicals, Inc. ... We queried disease-specific mutation databases and pharmacogenomics databases to identify genes and mutations with known ...
  https://med.stanford.edu/profiles/louanne-hudgins
*  Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjögren's syndrome | Journal of Translational...
Further; networks, pathways, and interaction analyses showed that LRP1 is functionally related to the HLA-B and IL10 genes and ... Whole exome sequencing (WES) is a widely used strategy for detection of protein coding and splicing variants associated with ... These were subsequently subject to network analysis and their functional relatedness to genes already associated with ... two very well known autoimmunity genes. Novel and rare exonic mutations that may account for autoimmunity were identified. ...
  https://translational-medicine.biomedcentral.com/articles/10.1186/s12967-015-0525-x