MeSH Review:
Mutation, Missense
Mitchell,
Blangero,
Comuzzie,
Almasy,
Shuldiner,
Silver,
Stern,
MacCluer,
Hixson,
Vicart,
Caron,
Guicheney,
Li,
Prévost,
Faure,
Chateau,
Chapon,
Tomé,
Dupret,
Paulin,
Fardeau,
Kobayashi,
Ikeda,
Kojima,
Niki,
Yano,
Yoshioka,
Kumanishi,
Bonne,
Di Barletta,
Varnous,
Bécane,
Hammouda,
Merlini,
Muntoni,
Greenberg,
Gary,
Urtizberea,
Duboc,
Fardeau,
Toniolo,
Schwartz,
Minetti,
Sotgia,
Bruno,
Scartezzini,
Broda,
Bado,
Masetti,
Mazzocco,
Egeo,
Donati,
Volonte,
Galbiati,
Cordone,
Bricarelli,
Lisanti,
Zara,
Waterham,
Koster,
Romeijn,
Hennekam,
Vreken,
Andersson,
FitzPatrick,
Kelley,
Wanders,
Free,
Wakefield,
Smith,
Dryden,
Barlow,
Bird,
- A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Vicart, P., Caron, A., Guicheney, P., Li, Z., Prévost, M.C., Faure, A., Chateau, D., Chapon, F., Tomé, F., Dupret, J.M., Paulin, D., Fardeau, M. Nat. Genet. (1998)
- MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma. Eppert, K., Scherer, S.W., Ozcelik, H., Pirone, R., Hoodless, P., Kim, H., Tsui, L.C., Bapat, B., Gallinger, S., Andrulis, I.L., Thomsen, G.H., Wrana, J.L., Attisano, L. Cell (1996)
- A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. Hovnanian, A., Pollack, E., Hilal, L., Rochat, A., Prost, C., Barrandon, Y., Goossens, M. Nat. Genet. (1993)
- Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Kremer, H., Kraaij, R., Toledo, S.P., Post, M., Fridman, J.B., Hayashida, C.Y., van Reen, M., Milgrom, E., Ropers, H.H., Mariman, E. Nat. Genet. (1995)
- A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus. Hager, J., Hansen, L., Vaisse, C., Vionnet, N., Philippi, A., Poller, W., Velho, G., Carcassi, C., Contu, L., Julier, C. Nat. Genet. (1995)
- A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Merienne, K., Jacquot, S., Pannetier, S., Zeniou, M., Bankier, A., Gecz, J., Mandel, J.L., Mulley, J., Sassone-Corsi, P., Hanauer, A. Nat. Genet. (1999)
- Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production. Citron, M., Oltersdorf, T., Haass, C., McConlogue, L., Hung, A.Y., Seubert, P., Vigo-Pelfrey, C., Lieberburg, I., Selkoe, D.J. Nature (1992)
- DNA recognition by the methyl-CpG binding domain of MeCP2. Free, A., Wakefield, R.I., Smith, B.O., Dryden, D.T., Barlow, P.N., Bird, A.P. J. Biol. Chem. (2001)
- The missense mutation in the WKL1 gene not found in patients with bipolar affective disorder. Ewald, H., Lundorf, M.D. Mol. Psychiatry (2002)
- MLC1 gene is associated with schizophrenia and bipolar disorder in Southern India. Verma, R., Mukerji, M., Grover, D., B-Rao, C., Das, S.K., Kubendran, S., Jain, S., Brahmachari, S.K. Biol. Psychiatry (2005)
- X-linked lymphoproliferative disease: a progressive immunodeficiency. Morra, M., Howie, D., Grande, M.S., Sayos, J., Wang, N., Wu, C., Engel, P., Terhorst, C. Annu. Rev. Immunol. (2001)
- Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Jordanova, A., Irobi, J., Thomas, F.P., Van Dijck, P., Meerschaert, K., Dewil, M., Dierick, I., Jacobs, A., De Vriendt, E., Guergueltcheva, V., Rao, C.V., Tournev, I., Gondim, F.A., D'Hooghe, M., Van Gerwen, V., Callaerts, P., Van Den Bosch, L., Timmermans, J.P., Robberecht, W., Gettemans, J., Thevelein, J.M., De Jonghe, P., Kremensky, I., Timmerman, V. Nat. Genet. (2006)
- Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Vogt, G., Chapgier, A., Yang, K., Chuzhanova, N., Feinberg, J., Fieschi, C., Boisson-Dupuis, S., Alcais, A., Filipe-Santos, O., Bustamante, J., de Beaucoudrey, L., Al-Mohsen, I., Al-Hajjar, S., Al-Ghonaium, A., Adimi, P., Mirsaeidi, M., Khalilzadeh, S., Rosenzweig, S., de la Calle Martin, O., Bauer, T.R., Puck, J.M., Ochs, H.D., Furthner, D., Engelhorn, C., Belohradsky, B., Mansouri, D., Holland, S.M., Schreiber, R.D., Abel, L., Cooper, D.N., Soudais, C., Casanova, J.L. Nat. Genet. (2005)
- Identification of mutations in CUL7 in 3-M syndrome. Huber, C., Dias-Santagata, D., Glaser, A., O'Sullivan, J., Brauner, R., Wu, K., Xu, X., Pearce, K., Wang, R., Uzielli, M.L., Dagoneau, N., Chemaitilly, W., Superti-Furga, A., Dos Santos, H., Mégarbané, A., Morin, G., Gillessen-Kaesbach, G., Hennekam, R., Van der Burgt, I., Black, G.C., Clayton, P.E., Read, A., Le Merrer, M., Scambler, P.J., Munnich, A., Pan, Z.Q., Winter, R., Cormier-Daire, V. Nat. Genet. (2005)
- Mutations in dynamin 2 cause dominant centronuclear myopathy. Bitoun, M., Maugenre, S., Jeannet, P.Y., Lacène, E., Ferrer, X., Laforêt, P., Martin, J.J., Laporte, J., Lochmüller, H., Beggs, A.H., Fardeau, M., Eymard, B., Romero, N.B., Guicheney, P. Nat. Genet. (2005)
- Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Calonge, M.J., Gasparini, P., Chillarón, J., Chillón, M., Gallucci, M., Rousaud, F., Zelante, L., Testar, X., Dallapiccola, B., Di Silverio, F. Nat. Genet. (1994)
- Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Rousseau, F., Bonaventure, J., Legeai-Mallet, L., Pelet, A., Rozet, J.M., Maroteaux, P., Le Merrer, M., Munnich, A. Nature (1994)
- A paired sibling analysis of the beta-3 adrenergic receptor and obesity in Mexican Americans. Mitchell, B.D., Blangero, J., Comuzzie, A.G., Almasy, L.A., Shuldiner, A.R., Silver, K., Stern, M.P., MacCluer, J.W., Hixson, J.E. J. Clin. Invest. (1998)
- Mutations in the tumor suppressors Smad2 and Smad4 inactivate transforming growth factor beta signaling by targeting Smads to the ubiquitin-proteasome pathway. Xu, J., Attisano, L. Proc. Natl. Acad. Sci. U.S.A. (2000)
- A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. Kotowski, I.K., Pertsemlidis, A., Luke, A., Cooper, R.S., Vega, G.L., Cohen, J.C., Hobbs, H.H. Am. J. Hum. Genet. (2006)
- A mutation in CFTR produces different phenotypes depending on chromosomal background. Kiesewetter, S., Macek, M., Davis, C., Curristin, S.M., Chu, C.S., Graham, C., Shrimpton, A.E., Cashman, S.M., Tsui, L.C., Mickle, J. Nat. Genet. (1993)
- Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome. Dolphin, C.T., Janmohamed, A., Smith, R.L., Shephard, E.A., Phillips, I.R. Nat. Genet. (1997)
- Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Windpassinger, C., Auer-Grumbach, M., Irobi, J., Patel, H., Petek, E., Hörl, G., Malli, R., Reed, J.A., Dierick, I., Verpoorten, N., Warner, T.T., Proukakis, C., Van den Bergh, P., Verellen, C., Van Maldergem, L., Merlini, L., De Jonghe, P., Timmerman, V., Crosby, A.H., Wagner, K. Nat. Genet. (2004)
- A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Curran, M.E., Splawski, I., Timothy, K.W., Vincent, G.M., Green, E.D., Keating, M.T. Cell (1995)
- Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Castilla, L.H., Couch, F.J., Erdos, M.R., Hoskins, K.F., Calzone, K., Garber, J.E., Boyd, J., Lubin, M.B., Deshano, M.L., Brody, L.C. Nat. Genet. (1994)
- Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents. Barnes, D.E., Tomkinson, A.E., Lehmann, A.R., Webster, A.D., Lindahl, T. Cell (1992)
- Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Clifton-Bligh, R.J., Wentworth, J.M., Heinz, P., Crisp, M.S., John, R., Lazarus, J.H., Ludgate, M., Chatterjee, V.K. Nat. Genet. (1998)
- Pushing the envelope on lipodystrophy. Flier, J.S. Nat. Genet. (2000)
- A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Steinlein, O.K., Mulley, J.C., Propping, P., Wallace, R.H., Phillips, H.A., Sutherland, G.R., Scheffer, I.E., Berkovic, S.F. Nat. Genet. (1995)
- Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Verhoeven, K., Van Laer, L., Kirschhofer, K., Legan, P.K., Hughes, D.C., Schatteman, I., Verstreken, M., Van Hauwe, P., Coucke, P., Chen, A., Smith, R.J., Somers, T., Offeciers, F.E., Van de Heyning, P., Richardson, G.P., Wachtler, F., Kimberling, W.J., Willems, P.J., Govaerts, P.J., Van Camp, G. Nat. Genet. (1998)
- Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Vikkula, M., Boon, L.M., Carraway, K.L., Calvert, J.T., Diamonti, A.J., Goumnerov, B., Pasyk, K.A., Marchuk, D.A., Warman, M.L., Cantley, L.C., Mulliken, J.B., Olsen, B.R. Cell (1996)
- Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. Meindl, A., Berger, W., Meitinger, T., van de Pol, D., Achatz, H., Dörner, C., Haasemann, M., Hellebrand, H., Gal, A., Cremers, F. Nat. Genet. (1992)
- Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Indo, Y., Tsuruta, M., Hayashida, Y., Karim, M.A., Ohta, K., Kawano, T., Mitsubuchi, H., Tonoki, H., Awaya, Y., Matsuda, I. Nat. Genet. (1996)
- Obesity associated with a mutation in a genetic regulator of adipocyte differentiation. Ristow, M., Müller-Wieland, D., Pfeiffer, A., Krone, W., Kahn, C.R. N. Engl. J. Med. (1998)
- Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. Schipani, E., Langman, C.B., Parfitt, A.M., Jensen, G.S., Kikuchi, S., Kooh, S.W., Cole, W.G., Jüppner, H. N. Engl. J. Med. (1996)
- Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair. Risinger, J.I., Umar, A., Boyd, J., Berchuck, A., Kunkel, T.A., Barrett, J.C. Nat. Genet. (1996)
- Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Bonne, G., Di Barletta, M.R., Varnous, S., Bécane, H.M., Hammouda, E.H., Merlini, L., Muntoni, F., Greenberg, C.R., Gary, F., Urtizberea, J.A., Duboc, D., Fardeau, M., Toniolo, D., Schwartz, K. Nat. Genet. (1999)
- Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Amir, R.E., Van den Veyver, I.B., Wan, M., Tran, C.Q., Francke, U., Zoghbi, H.Y. Nat. Genet. (1999)
- Neurofibromatosis 2 tumour suppressor schwannomin interacts with betaII-spectrin. Scoles, D.R., Huynh, D.P., Morcos, P.A., Coulsell, E.R., Robinson, N.G., Tamanoi, F., Pulst, S.M. Nat. Genet. (1998)
- Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Minetti, C., Sotgia, F., Bruno, C., Scartezzini, P., Broda, P., Bado, M., Masetti, E., Mazzocco, M., Egeo, A., Donati, M.A., Volonte, D., Galbiati, F., Cordone, G., Bricarelli, F.D., Lisanti, M.P., Zara, F. Nat. Genet. (1998)
- Mutations in EFHC1 cause juvenile myoclonic epilepsy. Suzuki, T., Delgado-Escueta, A.V., Aguan, K., Alonso, M.E., Shi, J., Hara, Y., Nishida, M., Numata, T., Medina, M.T., Takeuchi, T., Morita, R., Bai, D., Ganesh, S., Sugimoto, Y., Inazawa, J., Bailey, J.N., Ochoa, A., Jara-Prado, A., Rasmussen, A., Ramos-Peek, J., Cordova, S., Rubio-Donnadieu, F., Inoue, Y., Osawa, M., Kaneko, S., Oguni, H., Mori, Y., Yamakawa, K. Nat. Genet. (2004)
- NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Boute, N., Gribouval, O., Roselli, S., Benessy, F., Lee, H., Fuchshuber, A., Dahan, K., Gubler, M.C., Niaudet, P., Antignac, C. Nat. Genet. (2000)
- Ethanol opens G-protein-activated inwardly rectifying K+ channels. Kobayashi, T., Ikeda, K., Kojima, H., Niki, H., Yano, R., Yoshioka, T., Kumanishi, T. Nat. Neurosci. (1999)
- Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Waterham, H.R., Koster, J., Romeijn, G.J., Hennekam, R.C., Vreken, P., Andersson, H.C., FitzPatrick, D.R., Kelley, R.I., Wanders, R.J. Am. J. Hum. Genet. (2001)
- Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations. Wallace, D.C., Stugard, C., Murdock, D., Schurr, T., Brown, M.D. Proc. Natl. Acad. Sci. U.S.A. (1997)