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 in the gene HR can lead to complete hair loss, though this is not typical in humans.

Mutations can have an impact on the phenotype of an organism, especially if they occur within the protein coding sequence of a gene.

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 gene for aspartoacylase prevent the breakdown of N-acetylaspartate, and reduce brain acetate availability during brain development.

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

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

Mutations of the HFE gene account for 90 % of the cases of non-transfusional iron overload.

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 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 of the FOXP3 gene can prevent regulatory T cell development, causing the fatal autoimmune disease IPEX.

Mutations are considered the driving force of evolution, where less favorable ( or deleterious ) mutations are removed from the gene pool by natural selection, while more favorable ( or beneficial ) ones tend to accumulate.

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

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

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

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 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 the ATP7A gene, located on chromosome Xq12-q13, are the cause of Menkes syndrome.

Mutations in the FLCN gene, located on the short arm of chromosome 17 ( 17p11. 2 ), cause Birt – Hogg – Dubé syndrome.

* IARC TP53 Somatic Mutations database maintained at IARC, Lyon, by Magali Olivier

Koolhaas's next landmark publications were a product of his position as professor at Harvard University, in the design school's " Project on the City "; firstly the 720-page Mutations, followed by The Harvard Design School Guide to Shopping ( 2002 ) and The Great Leap Forward ( 2002 ).

Suddenly, evolutionary theorists could answer the charge that spontaneous random mutations should result overwhelmingly in deleterious changes to a fragile, monolithic genome: Mutations in homeobox regulation could safely — yet dramatically — alter morphology at a high level, without damaging coding for specific organs or tissues.

Mutations usually sound at pitches in the harmonic series of the fundamental and, except where they are derived from unit ranks, are always tuned pure.

Mutations in some homeotic genes can often be lethal and the cycle of life will end at embryogenesis.

COUM's earliest public events were impromptu musical gigs performed at various pubs around Hull ; titles for these events included Thee Fabulous Mutations, Space Between the Violins, Dead Violins and Degradation and Clockwork Hot Spoiled Acid Test.

* Beck's " High Five ( Rock the Catskills )" on the album Odelay ( 1996 ), starting at 2: 10 and finishing at 2: 30 ; and on " Tropicalia " from the album Mutations ( 1998 ) played by Smokey Hormel

Mutations in the Notch 3 gene ( on the short arm of chromosome 19 ) cause an abnormal accumulation of Notch 3 at the cytoplasmic membrane of vascular smooth-muscle cells both in cerebral and extracerebral vessels, seen as granular osmiophilic deposits on electron microscopy.

Mutations at many steps in the pathway towards the restriction point can result in cancerous growth of cells.

He wrote seven songs with the band-" Ill in the Head " and " Forward to Death ", both of which appear on the band's debut album Fresh Fruit for Rotting Vegetables ; " Short Songs ", " Gaslight ", and " Straight A's ", which appear on the live album Live at the Deaf Club ; " Mutations of Today ", which appears on The 1978 Demos ; and " Religious Vomit ", which appears on the EP In God We Trust, Inc ..

Mutations in these photo receptors and their signal transduction components lead to seedling development that is at odds with light conditions, for example seedlings that show photomorphogenesis when grown in the dark.

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

Mutations in the Ras family of proto-oncogenes ( comprising H-Ras, N-Ras and K-Ras ) are very common, being found in 20 % to 30 % of all human tumours.

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.

Mutations in the human CD36 gene were first identified in a patient who, despite multiple platelet transfusions, continued to exhibit low platelet levels.

Mutations in human CNGA3 and CNGB3 are involved in complete achromatopsia, which is a rare, autosomal recessive inherited and congenital disorder characterized by the complete failure in color distinction.

Mutations or defects in primary cilia have been found to play a role in human diseases.

Mutations in BMPs and their inhibitors ( such as sclerostin ) are associated with a number of human disorders which affect the skeleton.

Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure.

Mutations in this gene are a cause of inherited human dilated with refractory.

Mutations in the Ras family of proto-oncogenes ( comprising H-Ras, N-Ras and K-Ras ) are very common, being found in 20 % to 30 % of all human tumours.

Mutations in the human homologues of the Mut proteins affect genomic stability, which can result in microsatellite instability ( MI ).