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

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

Mutations are characterized as either β < sup > o </ sup > or β thalassemia major if they prevent any formation of β chains, the most severe form of β thalassemia.

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 in these genes alter the usual structure and function of potassium channels or prevent the assembly of normal channels.

Mutations in the KCNJ2 gene alter the usual structure and function of potassium channels or prevent the channels from being inserted correctly into the cell membrane.

Mutations in SLC25A13 typically prevent the production of any functional citrin, which inhibits the urea cycle and disrupts the production of proteins and nucleotides.

Mutations in the GCDH gene prevent production of the enzyme or result in the production of a defective enzyme with very low residual activity, or an enzyme with relatively high residual activity but still phenotypic consequences.

Mutations in the genes that control the formation of down feathers have been recorded in a German White Leghorn flock.

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.

* Mutations in catenin genes can cause loss of contact inhibition that can promote cancer development and tumor formation.

Mutations and natural selection result in a species acquiring new traits and eventually evolving into one or more new species.

Mutations in the genes for the hemoglobin protein in a species result in hemoglobin variants.

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

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 tend to result in the loss of CNGB3 function or gain of function ( often increased affinity for cGMP ) of CNGA3.

Mutations in GNAT2 tend to result in a truncated and, presumably, non-functional protein, thereby preventing alteration of cGMP levels by photons.

Mutations in the human sonic hedgehog gene, SHH, cause holoprosencephaly type 3 ( HPE3 ) as a result of the loss of the ventral midline.

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 leading to defects in vitamin B < sub > 12 </ sub > metabolism or in its transport frequently result in the development of methylmalonic acidemia.

Mutations in receptors that result in increased constitutive activity underlie some inherited diseases, such as precocious puberty ( due to mutations in luteinizing hormone receptors ) and hyperthyroidism ( due to mutations in thyroid-stimulating hormone receptors ).

Mutations in the cardiac troponin subunits can result in cardiomyopathies, including familial hypertrophic cardiomyopathy.

Mutations in TIM result in an inability to respond to zeitgebers, which is essential for resetting the biological clock.

Mutations that affect the normal function of these genes can result in retinitis pigmentosa and vision loss.

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 specifically in the subunits A and B result in complete and incomplete achromatopsia.

Mutations that occur early on in development will affect a greater number of cells and can result in an individual that can be identified as a mosaic strictly based on phenotype.

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

Mutations in both copies of the IVD gene result in isovaleric acidemia.

Mutations affecting EGFR expression or activity could result in cancer.

Mutations involving EGFR could lead to its constant activation, which could result in uncontrolled cell division – a predisposition for cancer.

Indels can also be contrasted with Tandem Base Mutations ( TBM ), which may result from fundamentally different mechanisms.

Mutations in the amyloid precursor protein ( APP ), Presenilin ( PS ) 1 and PS2 genes can result in increased rates of cleavage of the APP into Aβ.

game as well as adding sophisticated new rule systems specific to the setting ( e. g. Mutations and ' Weird Science ').

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 are changes in the DNA sequence of a cell's genome and are caused by radiation, viruses, transposons and mutagenic chemicals, as well as errors that occur during meiosis or DNA replication.

Mutations are caused by radiation, viruses, transposons and mutagenic chemicals, as well as errors that occur during meiosis or DNA replication.

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

Mutations in a number of different genes as well as RAS itself can have this effect.

Mutations in the PCCA or PCCB genes disrupt the function of the enzyme, preventing these acids from being metabolized.

Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of diastrophic dysplasia.

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 any of these genes reduce or eliminate the function of the enzyme complex, preventing the normal breakdown of isoleucine, leucine, and valine.

Mutations in the HLCS gene reduce the activity of holocarboxylase synthetase, preventing cells from using biotin effectively and disrupting many cellular functions.

Mutations in the HEXB gene disrupt the activity of these enzymes, preventing the breakdown of GM2 ganglioside and other molecules.