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Mutations in the melanocortin-3 receptor MC3R gene: Mutations in the human homeobox MSX1 gene in the congenital lack of permanent teeth. Rafaleki in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.

Mutations in IRGM are associated with more frequent need for surgery in patients with ileocolonic Crohn’s disease. Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. Mutations in rpsL that confer streptomycin resistance show pleiotropic effects on virulence and the production of a carbapenem antibiotic in Erwinia carotovora.

Mutations of IDH1 and 2 genes: Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. Mutations in the cardiac Troponin C gene are a cause of idiopathic dilated cardiomyopathy in childhood. Mutations in the mitochondrial genome confer resistance of cancer cells to anticancer drugs.

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Mutations in the arginine vasopressin neurophysin-II gene in familial neurohypophyseal diabetes insipidus patients. Mutations in the embC-embA intergenic region contribute to Mycobacterium tuberculosis resistance to zbc.

Mutations in palmitoyl-protein thioesterase 1 alter exocytosis and endocytosis at synapses in Drosophila larvae.

Mutations in the control of virulence sensor gene from Streptococcus pyogenes after infection in mice lead to clonal bacterial variants with altered gene regulatory activity and virulence. Mutations in NGLY1 gene linked with new genetic disorder: Mutations in HIV-1 envelope that enhance entry with the macaque CD4 receptor alter antibody recognition by disrupting quaternary interactions within the trimer.


Biology, Geography & Health: Chapter 54516

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Mutations in the transcription elongation factor SPT5 disrupt a reporter for dosage compensation in Drosophila.

Mutations in the gene encoding DMT1: Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia. Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.

Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis. Mutations in rpoB and fusA aabc resistance to rifampicin and fusidic acid in methicillin-resistant Staphylococcus aureus strains from a tertiary hospital in Malaysia.

Mutations in H5N1 influenza virus hemagglutinin that confer binding to human tracheal skrzypcwe epithelium. Mutations in the exon 7 of Trp53 gene and the level of p53 protein in double transgenic mouse model of Alzheimer’s disease.

Mutations in fd phage rafa,ski coat protein modulate affinity of the displayed peptide. Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, skrzypowe impairment, and cognitive rafa,ski.

Mutations in the cardiac transcription factor GATA4 in patients with lone atrial fibrillation. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation dysequilibrium syndrome.

Dad, Why is it? Mutations in the Drosophila alphaPS2 integrin subunit uncover new features of adhesion site assembly. Mutations of isocitrate dehydrogenase 1 and 2 in intrahepatic cholangiocarcinoma. Mutations in KIT occur at low frequency in melanomas arising from anatomical sites associated with chronic and intermittent sun exposure.


Mutations in the polybasic juxtamembrane sequence of both plasma membrane- and endoplasmic reticulum-localized epidermal growth factor receptors confer ligand-independent cell transformation.

Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients. Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. Mutations of the MYH gene do not substantially contribute to the risk of breast cancer. Mutations in the rpsL gene are involved in streptomycin resistance in Campylobacter coli.

Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Mutations in the fourth EGF-like domain affect thrombomodulin-induced changes in the active site of thrombin. Mutations in TDP link glycine-rich domain functions to amyotrophic lateral sclerosis.

Mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Mutations in hepatitis C virus E2 located outside the CD81 binding sites lead to escape from broadly neutralizing antibodies but compromise virus infectivity. Mutations in Fis1 disrupt orderly disposal of defective mitochondria.