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 may also lead to fewer copies of the CFTR protein being produced.

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 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 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.

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

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.

* 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 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 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 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.