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Mutations may also lead to fewer copies of the CFTR protein being produced.
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Mutations and may
Mutations leading to carcinoma may be accelerated by genetic or environmental factors and other risk factors already described.
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 in the gene may cause impaired transport of lipids in the skin layer and may also lead to small version of the proteins responsible for skin development.
Mutations associated with the gene may result in changes in serotonin transporter function, and experiments with mice have identified more the 50 different phenotypic changes as a result of genetic variation.
Mutations in this substance may play a role in the disease.
Mutations in the gene that codes for C1-inhibitor, SERPING1, may also play a role in the development of age related macular degeneration.
Mutations in the FLCN gene may interfere with the ability of folliculin to restrain cell growth and division, leading to the formation of noncancerous and cancerous tumors.
Indels can also be contrasted with Tandem Base Mutations ( TBM ), which may result from fundamentally different mechanisms.
* Mutations or aberrant regulation of catenins may also associate with other factors that promote metastasis and tumorigenesis
In humans, GABA < sub > A </ sub >- ρ receptor subunits ρ1 and ρ2 are encoded by the and genes which are found on chromosome 6 whereas the gene for ρ3 is found on chromosome 3 Mutations in the ρ1 or ρ2 genes may be responsible for some cases of autosomal recessive retinitis pigmentosa.
Mutations and also
Mutations of the Chardonnay grape include the rare pink-berried " Chardonnay Rose "; also " Chardonnay Blanc Musqué ", which produces an intensely aromatic wine.
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 in the OFD1 gene can also cause several other disorders with features that overlap with those of oral-facial-digital syndrome.
Mutations in BRCA1 and BRCA2, important risk factors for ovarian cancer and breast cancer in women, have also been implicated in prostate cancer.
Mutations in the tafazzin gene ( TAZ, also called G4. 5 ) are closely associated with
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 the WFS1 gene cause Wolfram syndrome, which is also known by the acronym DIDMOAD.
Mutations of the WT1 gene on chromosome 11 p 13 are observed in approximately 20 % of Wilms ' tumors .< ref > At least half of the Wilms ' tumors with mutations in WT1 also carry mutations in CTNNB1, the gene encoding the proto-oncogene beta-catenin.
Mutations have also been found on the cytoplasmic loops between the S4 and S5 helices of domains II, III and IV, which are the binding sites of the inactivation gate.
Mutations in MCT8 and SECISBP2 have also been associated with this condition.
Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria.
Mutations that are not germline are somatic mutations, which are also called acquired mutations.
Mutations that cause the altered codon to produce an amino acid with similar functionality ( i. e. a mutation producing leucine instead of isoleucine ) are often also classified as silent ; if the properties of the amino acid are conserved, this mutation does not usually significantly affect protein function.
Mutations causing RP have also been found in the rhodopsin gene and in the alpha-and beta-subunits of rod phosphodiesterase, which encode rod phototransduction cascades.
Mutations in the same gene also cause enlarged vestibular aqueduct syndrome ( EVA or EVAS ), another congenital cause of deafness ; specific mutations are more likely to cause EVAS, while others are more linked with Pendred syndrome.
Mutations inherited through the chromosomes can be autosomal dominant or recessive and can also be sex-linked dominant or recessive.
Left-handed Waronker first became known in the late 1990s for his work with Beck ( on Odelay, Mutations, Midnite Vultures, Sea Change, Guero and Modern Guilt ), and was also a session drummer on The Smashing Pumpkins ' 1998 album Adore.
Mutations on the other hand can also be part of a survival strategy.
Mutations in the GDF6 and GDF3 genes have also been identified to cause the disease.
Mutations have been found in the CHS1 ( also called LYST ) gene.
Mutations and lead
Mutations in the gene HR can lead to complete hair loss, though this is not typical in humans.
Mutations in such microRNAs ( known as oncomirs ) can lead to activation of oncogenes.
Mutations in transpeptidases that lead to reduced interactions with an antibiotic are a significant source of emerging antibiotic resistance.
Mutations of mitochondrial DNA can lead to a number of illnesses including exercise intolerance and Kearns-Sayre syndrome ( KSS ), which causes a person to lose full function of heart, eye, and muscle movements.
Mutations in these areas can lead to non-functional proteins that can polymerise and accumulate in the liver ( infantile hepatic cirrhosis ).
Mutations that reduce the production of functional myostatin lead to an overgrowth of muscle tissue.
Mutations in the gene encoding this protein lead to Meesmann corneal dystrophy.
Mutations in the gene encoding this protein lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex.
Mutations in the dystrophin gene that lead to the production of less defective, but still only partially functional dystrophin protein, result in a display of a much milder dystrophic phenotype in affected patients, resulting in the disease known as Becker's muscular dystrophy ( BMD ).
Mutations in these genes typically lead to the synthesis of a truncated EXT protein which does not function normally.
Mutations in the ceruloplasmin gene (< i > CP </ i >), which are very rare, can lead to the genetic disease aceruloplasminemia, characterized by hyperferritinemia with iron overload.
Mutations in TCOF1 lead to haploinsufficiency of the Treacle protein.
Mutations in the PROS1 gene can lead to Protein S deficiency which is a rare blood disorder which can lead to an increased risk of thrombosis.
Mutations in these transporter proteins lead to a rare congenital disease called sitosterolaemia, which is characterised by:
Mutations in the HADHA gene lead to inadequate levels of an enzyme called long-chain 3-hydroxyacyl-coenzyme A ( CoA ) dehydrogenase, which is part of a protein complex known as mitochondrial trifunctional protein.
Mutations in the gene can lead to a defective protein and several forms of inherited arrhythmias as Long QT syndrome which is a prolongation of the QT interval of heart repolarization, Short QT syndrome, and Familial Atrial Fibrillation.
Mutations that lead to EGFR overexpression ( known as upregulation ) or overactivity have been associated with a number of cancers, including lung cancer, anal cancers and glioblastoma multiforme.
Mutations involving EGFR could lead to its constant activation, which could result in uncontrolled cell division – a predisposition for cancer.
Mutations in these domains lead to the channel's desensitivity to the βγ-complex and therefore reduce the activation of the GIRK channel.
Mutations in genes encoding these proteins can lead to inactivation of cadherin cell adhesions and elimination of contact inhibition, allowing cells to proliferate and migrate, thus promoting tumorigenesis and cancer development.
Mutations in DNA that lead to cancer ( only certain mutations can lead to cancer and the majority of potential mutations will have no bearing ) disrupt these orderly processes by disrupting the programming regulating the processes.
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