Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 13

Results: 19

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 2018, doi. 10.1093/hmg/ddn099

By:

Martinelli, Simone;
Torreri, Paola;
Tinti, Michele;
Stella, Lorenzo;
Bocchinfuso, Gianfranco;
Flex, Elisabetta;
Grottesi, Alessandro;
Ceccarini, Marina;
Palleschi, Antonio;
Cesareni, Gianni;
Castagnoli, Luisa;
Petrucci, Tamara C.;
Gelb, Bruce D.;
Tartaglia, Marco

Publication type:

Article

Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 2006, doi. 10.1093/hmg/ddn098

By:

Pymar, Louis S.;
Platt, Fiona M.;
Askham, Jon M.;
Morrison, Ewan E.;
Knowles, Margaret A.

Publication type:

Article

Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 1877, doi. 10.1093/hmg/ddn083

By:

Grandis, Marina;
Vigo, Tiziana;
Passalacqua, Mario;
Jain, Manisha;
Scazzola, Sara;
La Padula, Veronica;
Brucal, Michelle;
Benvenuto, Federica;
Nobbio, Lucilla;
Cadoni, Angela;
Mancardi, Gian Luigi;
Kamholz, John;
Shy, Michael E.;
Schenone, Angelo

Publication type:

Article

Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 1946, doi. 10.1093/hmg/ddn092

By:

Chevalier-Larsen, Erica S.;
Wallace, Karen E.;
Pennise, Cynthia R.;
Holzbaur, Erika L.F.

Publication type:

Article

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 1956, doi. 10.1093/hmg/ddn093

By:

Tayeh, Marwan K.;
Yen, Hsan-Jan;
Beck, John S.;
Searby, Charles C.;
Westfall, Trudi A.;
Griesbach, Hilary;
Sheffield, Val C.;
Slusarski, Diane C.

Publication type:

Article

De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 2058, doi. 10.1093/hmg/ddn105

By:

Bosveld, Floris;
Rana, Anil;
van der Wouden, Petra E.;
Lemstra, Willy;
Ritsema, Martha;
Kampinga, Harm H.;
Sibon, Ody C. M.

Publication type:

Article

A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 1904, doi. 10.1093/hmg/ddn088

By:

Martin, Dianna C.;
Atmuri, Vasantha;
Hemming, Richard J.;
Farley, Judith;
Mort, John S.;
Byers, Sharon;
Hombach-Klonisch, Sabine;
Stern, Robert;
Triggs-Raine, Barbara L.

Publication type:

Article

APOE/C1/C4/C2 hepatic control region polymorphism influences plasma apoE and LDL cholesterol levels.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 2039, doi. 10.1093/hmg/ddn101

By:

Klos, Kathy;
Shimmin, Lawrence;
Ballantyne, Christie;
Boerwinkle, Eric;
Clark, Andrew;
Coresh, Josef;
Hanis, Craig;
Liu, Kiang;
Sayre, Scott;
Hixson, James

Publication type:

Article

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 2030, doi. 10.1093/hmg/ddn100

By:

Beysen, Diane;
Moumné, Lara;
Veitia, Reiner;
Peters, Hartmut;
Leroy, Bart P.;
De Paepe, Anne;
De Baere, Elfride

Publication type:

Article

Endocannabinoid receptor 1 gene variations increase risk for obesity and modulate body mass index in European populations.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 1916, doi. 10.1093/hmg/ddn089

By:

Benzinou, Michael;
Chèvre, Jean-Claude;
Ward, Kirsten J.;
Lecoeur, Cécile;
Dina, Christian;
Lobbens, Stephane;
Durand, Emmanuelle;
Delplanque, Jérome;
Horber, Fritz F.;
Heude, Barbara;
Balkau, Beverley;
Borch-Johnsen, Knut;
Jørgensen, Torben;
Hansen, Torben;
Pedersen, Oluf;
Meyre, David;
Froguel, Philippe

Publication type:

Article

Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 1938, doi. 10.1093/hmg/ddn091

By:

Capon, Francesca;
Bijlmakers, Marie-José;
Wolf, Natalie;
Quaranta, Maria;
Huffmeier, Ulrike;
Allen, Michael;
Timms, Kirsten;
Abkevich, Victor;
Gutin, Alexander;
Smith, Rhodri;
Warren, Richard B.;
Young, Helen S.;
Worthington, Jane;
Burden, A. David;
Griffiths, Christopher E.M.;
Hayday, Adrian;
Nestle, Frank O.;
Reis, Andre;
Lanchbury, Jerry;
Barker, Jonathan N.

Publication type:

Article

DNA double-strand break repair in parental chromatin of mouse zygotes, the first cell cycle as an origin of de novo mutation.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 1922, doi. 10.1093/hmg/ddn090

By:

Derijck, Alwin;
van der Heijden, Godfried;
Giele, Maud;
Philippens, Marielle;
de Boer, Peter

Publication type:

Article

The loss of methyl-CpG binding protein 1 leads to autism-like behavioral deficits.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 2047, doi. 10.1093/hmg/ddn102

By:

Allan, Andrea M.;
Liang, Xiaomin;
Luo, Yuping;
Pak, ChangHui;
Li, Xuekun;
Szulwach, Keith E.;
Chen, Dahua;
Jin, Peng;
Zhao, Xinyu

Publication type:

Article

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 1968, doi. 10.1093/hmg/ddn094

By:

Rinne, Tuula;
Clements, Suzanne E.;
Lamme, Evert;
Duijf, Pascal H.G.;
Bolat, Emine;
Meijer, Rowdy;
Scheffer, Hans;
Rosser, Elisabeth;
Tan, Tiong Yang;
McGrath, John A.;
Schalkwijk, Joost;
Brunner, Han G.;
Zhou, Huiqing;
van Bokhoven, Hans

Publication type:

Article

Haemoglobin S and haemoglobin C: ‘quick but costly’ versus ‘slow but gratis’ genetic adaptations to Plasmodium falciparum malaria.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 2070, doi. 10.1093/hmg/ddn111

By:

Modiano, David;
Bancone, Germana;
Ciminelli, Bianca Maria;
Pompei, Fiorenza;
Blot, Isa;
Simporé, Jacques;
Modiano, Guido

Publication type:

Article

Identification of a novel asthma susceptibility gene on chromosome 1qter and its functional evaluation.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 1890

By:

White, Julia H.;
Chiano, Mathias;
Wigglesworth, Mark;
Geske, Robert;
Riley, John;
White, Nicola;
Hall, Simon;
Zhu, Guohua;
Maurio, Frank;
Savage, Tony;
Anderson, Wayne;
Cordy, Joanna;
Ducceschi, Melissa;
Vestbo, Jorgen;
Pillai, Sreekumar G.

Publication type:

Article

Genetic background conversion ameliorates semi-lethality and permits behavioral analyses in cystathionine β-synthase-deficient mice, an animal model for hyperhomocysteinemia.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 1994, doi. 10.1093/hmg/ddn097

By:

Akahoshi, Noriyuki;
Kobayashi, Chiho;
Ishizaki, Yasuki;
Izumi, Takashi;
Himi, Toshiyuki;
Suematsu, Makoto;
Ishii, Isao

Publication type:

Article

Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 1988, doi. 10.1093/hmg/ddn096

By:

Simón-Sánchez, Javier;
Singleton, Andrew B.

Publication type:

Article

Functional definition of the mutation cluster region of adenomatous polyposis coli in colorectal tumours.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 1978, doi. 10.1093/hmg/ddn095

By:

Kohler, Eva Maria;
Derungs, Adrian;
Daum, Gabriele;
Behrens, Jürgen;
Schneikert, Jean

Publication type:

Article