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Mutations of the genes VHL, RET, NF1 ( Gene 17 Neurofibromatosis type 1 ), SDHB and SDHD are all known to cause familial pheochromocytoma / extra-adrenal paraganglioma.
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Mutations and genes
Mutations in several genes have been linked to several types of epilepsy.
Mutations in two regulatory genes of white grapes turn off production of anthocyanins which are responsible for the color of purple grapes.
Mutations in the genes for the hemoglobin protein in a species result in hemoglobin variants.
Mutations in viral genes weakened their infectious ability, sometimes creating viruses that were able to infect and grow within only certain varieties of E coli.
Mutations in genes can cause also affect skin colour through oculocutaneous albinism ( OCA ) – a lack of pigment in the eyes, skin and sometimes hair that occurs occasionally in a very small fraction of the population.
Mutations / knockout of other genes affecting the GH / IGF1 axis, such as Lit, Ghr and Irs1 have also shown extension in lifespan, but much more modest both in relative and absolute terms.
Mutations in a number of different genes as well as RAS itself can have this effect.
Mutations in either of two major susceptibility genes, breast cancer susceptibility gene 1 ( BRCA1 ) and breast cancer susceptibility gene 2 ( BRCA2 ), confer a lifetime risk of breast cancer of between 60 and 85 percent and a lifetime risk of ovarian cancer of between 15 and 40 percent.
Mutations in these genes account for 70 to 80 percent of all cases of cerebral cavernous malformations.
Mutations in both copies of the PCCA or PCCB genes cause propionic acidemia.
Mutations in the PCCA or PCCB genes disrupt the function of the enzyme, preventing these acids from being metabolized.
* Mutations that cause CFC are found in the KRAS, BRAF, MEK1 and MEK2 genes.
Mutations in some homeotic genes can often be lethal and the cycle of life will end at embryogenesis.
Polycystic Disease is a genetic disease caused by Mutations in the PKD1, PKD2, and PKHD1 genes.
Mutations in the KCNH2, KCNJ2, and KCNQ1 genes cause short QT syndrome.
Mutations in any of these genes prevent the proper production or assembly of the type IV collagen network, which is an important structural component of basement membranes in the kidney, inner ear, and eye.
Mutations that affect the normal function of these genes can result in retinitis pigmentosa and vision loss.
Mutations in the genes expressing this protein have been associated with the PC1 variant of pachyonychia congenita, an inherited disorder of the epithelial tissues in which keratin 6A is expressed, particularly leading to structural abnormalities of the nails, the epidermis of the palms and soles, and oral epithelia.
Mutations in the genes encoding this protein have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia.
Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex and Dermatopathia pigmentosa reticularis, both of which are autosomal dominant mutations.
Mutations in these genes typically lead to the synthesis of a truncated EXT protein which does not function normally.
Mutations in either of these genes disrupt the ability of this transporter protein to reabsorb these amino acids, allowing them to become concentrated in the urine.
Mutations in the genes that control the formation of down feathers have been recorded in a German White Leghorn flock.
Mutations of the wingless gene in the fruit fly were found in wingless flies, while tumors caused by MMTV were found to have copies of the virus integrated into the genome forcing overproduction of one of several Wnt genes.
Mutations and RET
Mutations in the autosomal RET proto-oncogene drives these malignancies
Mutations and NF1
Mutations in the NF1 gene have been linked to NF-1, Juvenile myelomonocytic leukemia and Watson syndrome.
Mutations and Gene
Mutations in tafazzin that cause Barth syndrome span many different categories: missense, nonsense, deletion, frameshift, splicing ( see Human Tafazzin ( TAZ ) Gene Mutation & Variation Database ).
Mutations and 17
Mutations in the exons 11, 9 and rarely 13 and 17 of the c-kit gene are known to occur in GIST.
* Mutations II for ensemble and electronics ( 1973 ) 17 '
Mutations in the FLCN gene, located on the short arm of chromosome 17 ( 17p11. 2 ), cause Birt – Hogg – Dubé syndrome.
Mutations and type
Mutations in the human sonic hedgehog gene, SHH, cause holoprosencephaly type 3 ( HPE3 ) as a result of the loss of the ventral midline.
Mutations in different parts of the gene may lead to deafness or Stickler syndrome type III ( eye problems: myopia, retinal detachment and skeletal abnormalities ).
Mutations affecting repressor are said to be recessive to wild type ( and that wild type is dominant ), and this is explained by the fact that repressor is a small protein which can diffuse in the cell.
Mutations in the SMPD1 gene cause Niemann – Pick disease types A and B, and mutations in NPC1 and NPC2 cause Niemann – Pick disease, type C ( NPC ).
Mutations in only one gene, the CLRN1 gene, have been linked to Usher syndrome type III.
Mutations in the gene encoding this protein lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex.
Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of atelosteogenesis, type 2.
Mutations in the muscle isoform of glycogen phosphorylase ( PYGM ) are associated with McArdle's Disease ( glycogen storage disease type V ).
Mutations in the liver isoform of glycogen phosphorylase ( PYGL ) are associated with Hers ' Disease ( glycogen storage disease type VI ).
Mutations in any of these genes disrupt the production, processing, or assembly of type II or type XI collagen.
Mutations in any of the genes disrupt this process to cause a variety of syndromes depending on the type of mutation and other factors.
Mutations in the ASS gene cause type I citrullinemia.
Mutations in the SLC25A13 gene are responsible for type II citrullinemia.
Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules.
Mutations in these genes interfere with the proper assembly of type II and XI collagens or reduce the amount of these collagens.
Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly.
Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.
Mutations in the COL2A1 gene that cause Kniest dysplasia interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of the disorder.
Mutations in the COL11A2 gene lead to a loss of function of this type of collagen, resulting in the signs and symptoms of OSMED.
Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition.
Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition.
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