Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 14

Results: 19

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2150, doi. 10.1093/hmg/ddn114

By:

Rajab, Anna;
Kelberman, Daniel;
de Castro, Sandra C.P.;
Biebermann, Heike;
Shaikh, Hala;
Pearce, Kerra;
Hall, Catherine M.;
Shaikh, Guftar;
Gerrelli, Dianne;
Grueters, Annette;
Krude, Heiko;
Dattani, Mehul T.

Publication type:

Article

Aberrant molecular properties shared by familial Parkinson's disease-associated mutant UCH-L1 and carbonyl-modified UCH-L1.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2255, doi. 10.1093/hmg/ddn155

By:

Kabuta, Tomohiro;
Setsuie, Rieko;
Mitsui, Takeshi;
Kinugawa, Aiko;
Sakurai, Mikako;
Aoki, Shunsuke;
Uchida, Kenko;
Wada, Keiji

Publication type:

Article

A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2118, doi. 10.1093/hmg/ddn110

By:

Matera, Ivana;
Watkins-Chow, Dawn E.;
Loftus, Stacie K.;
Hou, Ling;
Incao, Arturo;
Silver, Debra L.;
Rivas, Cecelia;
Elliott, Eugene C.;
Baxter, Laura L.;
Pavan, William J.

Publication type:

Article

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2132, doi. 10.1093/hmg/ddn112

By:

Buj-Bello, Anna;
Fougerousse, Françoise;
Schwab, Yannick;
Messaddeq, Nadia;
Spehner, Danièle;
Pierson, Christopher R.;
Durand, Muriel;
Kretz, Christine;
Danos, Olivier;
Douar, Anne-Marie;
Beggs, Alan H.;
Schultz, Patrick;
Montus, Marie;
Denèfle, Patrice;
Mandel, Jean-Louis

Publication type:

Article

Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2101, doi. 10.1093/hmg/ddn108

By:

Fahmi, Saleemah;
Yang, Chendong;
Esmail, Sophie;
Hobbs, Helen H.;
Cohen, Jonathan C.

Publication type:

Article

Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2071, doi. 10.1093/hmg/ddn106

By:

Alves, Sandro;
Régulier, Etienne;
Nascimento-Ferreira, Isabel;
Hassig, Raymonde;
Dufour, Noelle;
Koeppen, Arnulf;
Carvalho, Ana Luísa;
Simões, Sérgio;
de Lima, Maria C. Pedroso;
Brouillet, Emmanuel;
Gould, Veronica Colomer;
Déglon, Nicole;
de Almeida, Luís Pereira

Publication type:

Article

Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2228, doi. 10.1093/hmg/ddn123

By:

Bremer, Lindsay A.;
Blackman, Scott M.;
Vanscoy, Lori L.;
McDougal, Kathryn E.;
Bowers, Amanda;
Naughton, Kathleen M.;
Cutler, David J.;
Cutting, Garry R.

Publication type:

Article

ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2219, doi. 10.1093/hmg/ddn122

By:

Levran, Orna;
O'Hara, Kimberly;
Peles, Einat;
Li, Dawei;
Barral, Sandra;
Ray, Brenda;
Borg, Lisa;
Ott, Jurg;
Adelson, Miriam;
Kreek, Mary Jeanne

Publication type:

Article

Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2244, doi. 10.1093/hmg/ddn125

By:

Napierala, Dobrawa;
Sam, Kathy;
Morello, Roy;
Zheng, Qiping;
Munivez, Elda;
Shivdasani, Ramesh A.;
Lee, Brendan

Publication type:

Article

Premature aging in mice activates a systemic metabolic response involving autophagy induction.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2196

By:

Mariño, Guillermo;
Ugalde, Alejandro P.;
Salvador-Montoliu, Natalia;
Varela, Ignacio;
Quirós, Pedro M.;
Cadiñanos, Juan;
van der Pluijm, Ingrid;
Freije, José M.P.;
López-Otín, Carlos

Publication type:

Article

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2172, doi. 10.1093/hmg/ddn116

By:

Gordillo, Miriam;
Vega, Hugo;
Trainer, Alison H.;
Hou, Fajian;
Sakai, Norio;
Luque, Ricardo;
Kayserili, Hülya;
Basaran, Seher;
Skovby, Flemming;
Hennekam, Raoul C. M.;
Uzielli, Maria L. Giovannucci;
Schnur, Rhonda E.;
Manouvrier, Sylvie;
Chang, Susan;
Blair, Edward;
Hurst, Jane A.;
Forzano, Francesca;
Meins, Moritz;
Simola, Kalle O.J.;
Raas-Rothschild, Annick

Publication type:

Article

DNA instability in low-risk myelodysplastic syndromes: refractory anemia with or without ring sideroblasts.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2144, doi. 10.1093/hmg/ddn113

By:

Novotna, Bozena;
Neuwirtova, Radana;
Siskova, Magda;
Bagryantseva, Yana

Publication type:

Article

Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2084, doi. 10.1093/hmg/ddn107

By:

Tam, Lawrence C.S.;
Kiang, Anna-Sophia;
Kennan, Avril;
Kenna, Paul F.;
Chadderton, Naomi;
Ader, Marius;
Palfi, Arpad;
Aherne, Aileen;
Ayuso, Carmen;
Campbell, Matthew;
Reynolds, Alison;
McKee, Alex;
Humphries, Marian M.;
Farrar, G. Jane;
Humphries, Pete

Publication type:

Article

The S18Y polymorphic variant of UCH-L1 confers an antioxidant function to neuronal cells.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2160, doi. 10.1093/hmg/ddn115

By:

Kyratzi, Elli;
Pavlaki, Maria;
Stefanis, Leonidas

Publication type:

Article

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2238, doi. 10.1093/hmg/ddn124

By:

Balreira, Andrea;
Gaspar, Paulo;
Caiola, Daniel;
Chaves, João;
Beirão, Idalina;
Lima, José Lopes;
Azevedo, Jorge Eduardo;
Miranda, Maria Clara Sá

Publication type:

Article

Sirtuin inhibition protects from the polyalanine muscular dystrophy protein PABPN1.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2108, doi. 10.1093/hmg/ddn109

By:

Catoire, Hélène;
Pasco, Matthieu Y.;
Abu-Baker, Aida;
Holbert, Sébastien;
Tourette, Cendrine;
Brais, Bernard;
Rouleau, Guy A.;
Parker, J. Alex;
Néri, Christian

Publication type:

Article

A functional promoter variant in IL12B predisposes to cerebral malaria.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2190, doi. 10.1093/hmg/ddn118

By:

Marquet, Sandrine;
Doumbo, Ogobara;
Cabantous, Sandrine;
Poudiougou, Belco;
Argiro, Laurent;
Safeukui, Innocent;
Konate, Salimata;
Sissoko, Sibiri;
Chevereau, Estelle;
Traore, Abdoulaye;
Keita, Mamadou M.;
Chevillard, Christophe;
Abel, Laurent;
Dessein, Alain J.

Publication type:

Article

Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2181, doi. 10.1093/hmg/ddn117

By:

Heck, Detlef H.;
Zhao, Yu;
Roy, Snigdha;
LeDoux, Mark S.;
Reiter, Lawrence T.

Publication type:

Article

Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 14, p. 2212, doi. 10.1093/hmg/ddn121

By:

Chiquet, Brett T.;
Blanton, Susan H.;
Burt, Amber;
Ma, Deqiong;
Stal, Samuel;
Mulliken, John B.;
Hecht, Jacqueline T.

Publication type:

Article