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Gene

The main homepage for Human Genome Project information --what the project is; its progress, history, and goals; what issues ... Gene Gateway. Research Archive ... The analysis of gene sets has become a popular topic in recent times, with ... While a number of options for gene set analysis...

Xeroderma Pigmentosum

...eroderma Pigmentosum : symptoms, cause, treatments, complications, prevention, risks ... People with xeroderma pigmentosum have a defect in the gene that is ... A US Department of Health and Human Service project providing information on genetic and rare diseases. A comprehensive body of res...

Wilson disease

...c disease that leads to copper ... Bull PC et al. The Wilson disease gene is a putative copper transporting P-type ... Wilson's Disease info...information on Wilson's Disease . ... If both parents carry an abnormal gene for Wilson's disease there is a: ... Wilson's disease &mda...

Von Hippel-lindau Disease

... Lindau syndrome, is a rare ... At present, this gene is the only gene known to cause von Hippel - Lindau disease ..... The von Hippel - Lindau disease (VHL) gene is a putative tumor suppressor ...

Von Hippel-Lindau

...ndrome, is a rare ... The von Hippel - Lindau gene is located on the short arm of chromosome 3 (3p...tumor suppressor protein is encoded by the VHL gene and ... The von Hippel - Lindau Tumor Suppressor gene and Kidney Cancer" ... Article describes von ...

Vesicle

...in all species, ... GO:0030659 : cytoplasmic vesicle membrane [391 gene products] ... GO:0030120 : vesicle coat [200 ... GO:0030136 : clathrin-coated vesicle [441 gene products] ... vesicle -associated membrane protein synaptobrevin ...

Vein

...is ... News from Louisville, weather, sports, investigators, troubleshooter, Louisville jobs, ... Vein removal method linked to bypass results. gene mutation is ... DVT may damage the vein and cause the leg to ache, swell, and change color. ... through a vein (intravenously, or IV) ... Wh...

Usher Syndrome

...e n. An inherited syndrome characterized by sensorineural deafness and retinitis ... Genes associated with Usher syndrome . 5 Prospects for gene ... Usher syndrome is an inherited condition that causes a serious hearing loss that ... The Usher syndrome types are inherited as an ...

Uremia

... the hospital. ... Q: How can glomerulonephritis cause both proteinuria/hematuria and uremia ? ... Uremia Impacts Renal Inflammatory Cytokine gene Expression in the . The Analyst (TM) - Comprehensive Online Evaluations For Those Seeking Answers To ... Although the term " uremia " literally me...

Tyrosinemia

...nemia , also known as Richner-Hanhart syndrome; ... Tyrosinemia is a hereditary inborn error of metabolism that causes severe liver ... The gene defect for Tyrosinemia is an autosomal recessive genetic trait and is ... Important It is possible that the main title of the report Tyros...

Tuberous sclerosis

.... Overview: In 1880, Bourneville first described the cerebral manifestations of this disorder, applying the term ... the tuberous sclerosis gene products, ... ...

Translocation

...parently balanced reciprocal chromosomal translocation 46XX,t(X:5) ... normal, it seems that the translocation disrupted the iduronate sulphatase gene ... changes of ionic current indicate DNA translocation events. A transition from current decrease to current enhancement during translocation...

Toxin

...prices. sion have been blamed for poor B.t.- toxin expression, the ... toxin genes in plants has presented a technical challenge ... toxin gene expression. Two previous ... Researchers have demonstrated that a bacterial toxin from the common bacterium Staphylococcus aureus shuts down ...

Total protein

... The contribution of fibrinogen to total protein content in plasma compared to serum. ... Total protein Western blots for proteomics, gene discovery, & protein functional ... Protein Kits. Peptides and Blocking Peptides. Recombinant Proteins. Total ... ...

Tissue

...ardiovascular Disease. Anders H. Berg, ... Adipose Tissue Is a... Obesity Is Associated With... Obesity Is Associated With... Tissue -specific gene expression is generally regulated by more than a single ... Multiple TFs work in concert to achieve tissue specificity. ... Ovarian tissue t...

Thyroid cancer

...xpert-reviewed information summary about the treatment of thyroid cancer . ... Medullary thyroid cancer is sometimes caused by a change in a gene that is ... Features information on causes and treatment, clinical trials, prevention, genetics, screening and testing, and research and statisti...

Testicular feminization

...nsitivity syndrome (AIS), also referred to as androgen resistance syndrome, is a set of disorders of sex development caused by mutations of the gene encoding the androgen receptor. The nature of the resulting... Online Medical Dictionary and glossary with medical definitions ... Testicular ...

Testicular Cancer

... testicular cancer ? Testicular cancer happens when abnormal cells in the testicles (testes) begin to grow in an uncontrolled manner. Second gene Linked to Familial Testicular Cancer (06/29/2009, National Institute ... Questions for Your Doctor: Your First Visit( Testicular Cancer Resource...

Testes

...nsitivity syndrome (AIS), also referred to as androgen resistance syndrome, is a set of disorders of sex development caused by mutations of the gene encoding the androgen receptor. The nature of the resulting... Human ectopic xenografting was performed using adult testes . ... In comparison...

Tay-sachs

...osomal recessive pattern — it is caused by a genetic defect in a single gene and one... Tay - Sachs disease is an autosomal recessive genetic ...(LOTS), the body produces some hex A, but lower-than ... The Tay - Sachs gene is most common in people of Ashkenazi Jewish descent. ... Tay - Sachs...

Telangiectasia

.... Ataxia- telangiectasia is a rare inherited ... Mutations in the ATM gene cause ataxia- telangiectasia . ... MedlinePlus Encyclopedia: Ataxia- telan... is an extremely rare condition which ... A single Ataxia- Telangiectasia gene with a product similar to PI-3 kinase" ... Telangiectasia : Condition...

Tay-Sachs disease

... — it is caused by a genetic defect in a single gene and one... Tay - sachs disease informatio...e-onset Tay - Sachs disease (LOTS), the hex A gene is altered so that it ... A baby with Tay - Sach... Tay - Sachs disease is caused by a defective gene on chromosome 15. When both ... Tay - Sach...

Spinal muscular atrophy

...for children and adults with Spinal Muscular Atrophy (SMA) ... Diagnosing Spinal Muscular Atrophy . Prognosis ... I Am a Carrier of the SMA gene ... Spinal muscular atrophy Definition Spinal muscular atrophies (SMAs) are a wide group of genetic disorders characterized by primar...

Smooth muscle

...Cells ... The 2.3 kb smooth muscle myosin heavy chain promoter directs gene expression ... Smooth muscle contraction is initiated by Ca2+-ca...changes in shape and volume ... A research team identifies a defective gene that affects vascular smooth - muscle cells in people who suffer from ...

Skin color

...ult of some type of problem in the body. ... Yellowish color on the skin or in the whites of the eyes. Severe itching ... ... isolating the gene that makes European skin white, thanks to the golden variant of the fish. ... basis for human skin color has eluded scientists for ... Igua...

Sickle-cell disease

...nd can obviously ... ... if inherited factors relate to specific complications of Sickle Cell disease . ... Partners in the Outcome Modifying gene in Sickle Cell Disease ... Multimedia guide where you can learn what Sickle Cell Anemia is, what causes it, what it is like to have it, ...

Sickle cell trait

...hout symptoms, in which an individual carries only one mutated hemoglobin gene ... Questions (FAQs) - Questions submitted to the Web about Sickle C...cell trait . ... To have sickle cell trait means one carries a gene for sickle cell anemia which ... Getting sickle cell trait is ...

Sickle Cell Disease

...uses red blood ... ... if inherited factors relate to specific complications of Sickle Cell disease . ... Partners in the Outcome Modifying gene in Sickle Cell Disease ... ...

Sickle Cell

... is an inherited blood disease. ... People who inherit a sickle cell gene from one parent and a normal gene from the ... The signs and symptoms of sickle cell anemia are di...

Sex-linked recessive

...e - Sex ... The term " sex - linked recessive " means that an abnormal gene on the X chromosome ... Many human traits are either sex - linked ...ferring insensitivity to ... sex linkage n. The condition in which a gene responsible for a specific trait is located on a sex ... recessive . 2....

Sex-linked dominant

...ked ... The term " sex - linked dominant " means that a single abnormal gene on the X ... sex linkage n. The condition in which a gene responsible for a specific trait is located on a sex ... X-linked domin...

Rubinstein-Taybi Syndrome

...is a condition characterized by short stature, ... Mutations in the CREBBP gene are responsible for some cases of Rubinstein - Taybi syndrome . ... ...Table 1. Molecular Genetic Testing Used in Rubinstein - Taybi Syndrome . gene Symbol ... Evidence suggests that Rubinstein - Taybi syndrome (RSTS) is...

Reifenstein syndrome

...itivity syndrome (AIS), also referred to as androgen resistance syndrome , is a set of disorders of sex development caused by mutations of the gene encoding the androgen receptor. The nature of the resulting... Reifenstein syndrome is one of a group of diseases in which the body is unab...

PTH

... produced by the parathyroid glands that regulates the amount of calcium and phosphorus in the ... PTH ) ... Complete information for PTH gene (protein-coding), parathyroid hormone ... Function: PTH elevates calcium level by dissolving the salts in bone and preventing ... ...

Pseudoxanthoma Elasticum

...letins and more. Pseudoxanthoma elasticum is a progressive disorder that is characterized by ... of pseudoxanthoma elasticum , however, ... gene Review: Pseudoxanthoma Elasticum ... Pseudoxanthoma elasticum (PXE) affects the skin, eye, cardiovascular system, and ... Pseudoxanthom...

Protein C

...ch functions to inactivate Factors Va and VIIIa. ... normal level of Protein C , but decreased functional activity. ... Mouse protein -coding gene Proc. Represented by 121 ESTs from 30 cDNA libraries. ... Mus musculus protein C , mRNA (cDNA clone MGC:13870 IMAGE:4211329), complete ... Lis...

Protein

...... A protein is a biological polymer comprising numerous amino acids linked ... The sequence of amino acids in a protein is defined by a gene and encoded in the ... Information Staff, Agricultural Research Service, USDA. Communicating news and information about ... Moreover, the soy- pr...

Prader-Willi syndrome

...gy Information) Genetics Home Reference: Prader - Willi syndrome (National Library of Medicine) ... Prader - Willi syndrome is caused by a gene missing on part of chromosome 15. ... Exercise can increase lean body mass in children with Prader - Willi syndrome . ... Prader - Willi ...

Phenylketonuria

...inherited disorder that can cause mental retardation. ... FDA Approves Kuvan for Treatment of Phenylketonuria (PKU), December 13, 2007. ... The gene defect for phenylketonuria is an autosomal recessive ... Phenylketonuria (PKU) - Aspartame Information. PKU of Florida. PKU Organization of Ill...

Peripheral smear

...owStuffWorks. Learn about the purpose of Blood Smear , what to expect and how to ... Peripheral smear . How the test is performed ... ... and gene findings, with increased myeloblasts in peripheral smear and marrow. Peripheral smear : Immature white cells called blasts that are larger tha...
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