Mutations in the gene for the prion protein can cause a misfolding of the dominantly alpha helical regions into beta pleated sheets.

Mutations of the corresponding gene in mice ( FOXP2 is fairly well conserved ; modern humans share the same allele as Neanderthals ) cause reductions in size and vocalization rate.

Mutations of the thyroid-stimulating hormone receptor that cause a constitutive activation of the thyroid gland cells have been discovered recently.

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 of this very polymorphic gene, such as Arg151Sys ( rs1805007 ), Arg160Trp ( rs1805008 ), Asp294Sys ( rs1805009 ), Val60Leu ( rs1805005 ) and Val92Met ( rs2228479 ) have been shown to cause red hair and pale skin that does not tan in a small percentage of the human population.

Mutations in the androgen receptor gene can cause problems with any of the steps involved in androgenization, from the synthesis of the androgen receptor protein itself, through the transcriptional ability of the dimerized, androgen-AR complex.

* Mutations in the OFD1 gene can also cause several other disorders with features that overlap with those of oral-facial-digital syndrome.

Mutations in the gene coding for the NADPH oxidase cause an immunodeficiency syndrome called chronic granulomatous disease, characterized by extreme susceptibility to infection, especially catalase positive organisms.

Mutations in Complex III cause exercise intolerance as well as multisystem disorders.

Mutations of the c-kit receptor, leading to uncontrolled stimulation of the receptor, is a cause for the disease.

Mutations within RNase MRP have been shown to cause cartilage-hair hypoplasia, a disease associated with an array of symptoms such as short stature, sparse hair, skeletal abnormalities and a suppressed immune system that is frequent among Amish and Finnish.

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 in this gene and / or its regulatory regions cause or hypohaptoglobinemia.

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.

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 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 in the PPOX gene cause variegate porphyria.

Mutations within the desmosome are the main cause of Arrhythmogenic right ventricular cardiomyopathy ( ARVC ).

Mutations in the WFS1 gene cause Wolfram syndrome, which is also known by the acronym DIDMOAD.

Mutations of the gene for this enzyme can cause unusual forms of diabetes or hypoglycemia.

Mutations in both copies of the PCCA or PCCB genes cause propionic acidemia.

* SGSH Mutations can cause Sanfilippo syndrome

* Mutations that cause CFC are found in the KRAS, BRAF, MEK1 and MEK2 genes.

* Mutations that cause Noonan Syndrome have been found in PTPN11 and SOS1.

Mutations in the KCNH2, KCNJ2, and KCNQ1 genes cause short QT syndrome.

Mutations in these proteins can result in altered functionality of sub-complex assembly, copper transport, or translational regulation.

Mutations in the MUTYH gene are inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder.

Mutations leading to the loss of function of a gene are much more common than mutations that produce a new, fully functional gene.

Mutations in TERT have been implicated in predisposing patients to aplastic anemia, a disorder in which the bone marrow fails to produce blood cells, in 2005.

Mutations that only mildly decrease the enzyme's function do not normally cause the severe form of LNS, but do produce a milder form of the disease which still features purine overproduction accompanied by susceptibility to gout and uric acid nephrolithiasis.

Mutations in APP associated with early-onset Alzheimer's have been noted to increase the relative production of Aβ < sub > 42 </ sub >, and thus one suggested avenue of Alzheimer's therapy involves modulating the activity of β and γ secretases to produce mainly Aβ < sub > 40 </ sub >.

Mutations in nsP2 that produce noncytopathic viruses or a temperature sensitive phenotypes cluster at the P2 / P3 interface region.

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 transpeptidases that lead to reduced interactions with an antibiotic are a significant source of emerging antibiotic resistance.

Mutations that make organisms more adapted to their environment increase in the population through natural selection as organisms with favorable mutations have more offspring.

* JBTS3: Mutations in a gene of unknown function called AHI1 is associated with a subset of Joubert syndrome cases.

Mutations in the microsomal triglyceride transfer protein ( MTTP ) gene has been associated with this condition.

Mutations in this gene give rise to XY females with gonadal dysgenesis ( Swyer syndrome ); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome.

Mutations that affect insulin-like signaling in worms, flies, and the growth hormone / IGF1 axis in mice are associated with extended lifespan.

Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation.

** Liber XXVII: Liber Trigrammaton sub Figura XXVII — Being a book of Trigrams of the Mutations of the Tao with the Yin and yang.

Beck paid tribute to the group with his single " Tropicália " from the album Mutations.

Mutations in factor XII have been associated with an asymptomatic prolongation in the clotting time and possibly a tendency toward thrombophlebitis.

Mutations in the tafazzin gene ( TAZ, also called G4. 5 ) are closely associated with

Mutations in transthyretin is associated with hereditary amyloidosis.

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 to the V-ATPase ' a4 ' or ' B1 ' isoforms result in distal renal tubular acidosis, a condition that leads to metabolic acidosis, in some cases with sensorineural deafness.

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 in the cathepsin K gene are associated with pycnodysostosis, a hereditary osteopetrotic disease, characterised by lack of functional cathepsin K expression.

Godrich has collaborated with American singer-songwriter Beck several times, on Mutations ( 1998 ), Sea Change ( 2002 ) and The Information ( 2006 ).

The five recorded sections on the record, with G. Donald Harrison being the narrator, himself describing the five selections-being of: I-Principles, II-Flutes, III-Strings, IV-Reeds, and V-Mixtures and Mutations.

Mutations become common, resulting to individuals and creatures with mutant superpowers who unite in crime and become supervillains.

In 2004 Erythromelalgia became the first human disorder in which it has been possible to associate an ion channel mutation with chronic neuropathic pain ; this became possible when a Yale neurologist spotted a Beijing geneticists team paper in the Journal of Medical Genetics titled " Mutations in SCN9A, Encoding a Sodium Channel Alpha Subunit, in Patients With Primary Erythromelalgia "; a connection was made that this sodium channel mutation was expressed primarily in peripheral pain sensing neurons.