Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 9

Results: 22

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 983, doi. 10.1093/hmg/10.9.983

By:

Saarela, Jani;
Laine, Minna;
Oinonen, Carita;
von Schantz, Carina;
Jalanko, Anu;
Rouvinen, Juha;
Peltonen, Leena

Publication type:

Article

Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 997, doi. 10.1093/hmg/10.9.997

By:

Lindsay, Elizabeth A.;
Baldini, Antonio

Publication type:

Article

Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 953, doi. 10.1093/hmg/10.9.953

By:

Elomaa, Outi;
Pulkkinen, Kati;
Hannelius, Ulf;
Mikkola, Marja;
Saarialho-Kere, Ulpu;
Kere, Juha

Publication type:

Article

Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q.

Published in:: Human Molecular Genetics, 2001, v. 10, n. 9, p. 973, doi. 10.1093/hmg/10.9.973
Publication type:: Article

Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 911, doi. 10.1093/hmg/10.9.911

By:

Singh, Sanjaya;
Chao, Lian Y.;
Mishra, Rajnikant;
Davies, Jonathan;
Saunders, Grady F.

Publication type:

Article

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 947, doi. 10.1093/hmg/10.9.947

By:

López-Bigas, Núria;
Olivé, Montserrat;
Rabionet, Raquel;
Ben-David, Orit;
Martínez-Matos, Juan Antonio;
Bravo, Olga;
Banchs, Isabel;
Volpini, Victor;
Gasparini, Paolo;
Avraham, Karen B.;
Ferrer, Isidre;
Arbonés, Maria Lourdes;
Estivill, Xavier

Publication type:

Article

MECP2 is highly mutated in X-linked mental retardation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 941, doi. 10.1093/hmg/10.9.941

By:

Couvert, Philippe;
Bienvenu, Thierry;
Aquaviva, Cecile;
Poirier, Karine;
Moraine, Claude;
Gendrot, Chantal;
Verloes, Alain;
Andrès, Christian;
Le Fevre, Anne Celine;
Souville, Isabelle;
Steffann, Julie;
des Portes, Vincent;
Ropers, Hans-Hilger;
Yntema, Helger G.;
Fryns, Jean-Pierre;
Briault, Sylvain;
Chelly, Jamel;
Cherif, Beldjord

Publication type:

Article

Inducible expression of mutant α-synuclein decreases proteasome activity and increases sensitivity to mitochondria-dependent apoptosis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 919, doi. 10.1093/hmg/10.9.919

By:

Tanaka, Yuji;
Engelender, Simone;
Igarashi, Shuichi;
Rao, Raghuram K.;
Wanner, Tracy;
Tanzi, Rudolph E.;
Sawa, Akira;
Dawson, Valina L.;
Dawson, Ted M.;
Ross, Christopher A.

Publication type:

Article

Analysis of a malsegregating mouse Y chromosome: evidence that the earliest cleavage divisions of the mammalian embryo are non-disjunction-prone.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 963, doi. 10.1093/hmg/10.9.963

By:

Bean, Christopher J.;
Hunt, Patricia A.;
Millie, Elise A.;
Hassold, Terry J.

Publication type:

Article

The endothelin receptor B (EDNRB) promoter displays heterogeneous, site specific methylation patterns in normal and tumor cells.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 903, doi. 10.1093/hmg/10.9.903

By:

Pao, Martha M.;
Tsutsumi, Masakazu;
Liang, Gangning;
Uzvolgyi, Eva;
Gonzales, Felicidad A.;
Jones, Peter A.

Publication type:

Article

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 927, doi. 10.1093/hmg/10.9.927

By:

Hulková, H.;
Cervenková, M.;
Ledvinová, J.;
Tochácková, M.;
Hrebícek, M.;
Poupetová, H.;
Befekadu, A.;
Berná, L.;
Paton, B.C.;
Harzer, K.;
Böör, A.;
Šmíd, F.;
Elleder, M.

Publication type:

Article

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 927, doi. 10.1093/hmg/10.9.927

By:

Hulková, H.;
Cervenková, M.;
Ledvinová, J.;
Tochácková, M.;
Hrebícek, M.;
Poupetová, H.;
Befekadu, A.;
Berná, L.;
Paton, B.C.;
Harzer, K.;
Böör, A.;
míd, F.;
Elleder, M.

Publication type:

Article

The endothelin receptor B ( EDNRB) promoter displays heterogeneous, site specific methylation patterns in normal and tumor cells.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 906, doi. 10.1093/hmg/10.9.903

By:

Pao, Martha M.;
Tsutsumi, Masakazu;
Liang, Gangning;
Uzvolgyi, Eva;
Gonzales, Felicidad A.;
Jones, Peter A.

Publication type:

Article

Analysis of a malsegregating mouse Y chromosome: evidence that the earliest cleavage divisions of the mammalian embryo are non-disjunction-prone.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 963, doi. 10.1093/hmg/10.9.963

By:

Bean, Christopher J.

Publication type:

Article

Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 997, doi. 10.1093/hmg/10.9.997

By:

Lindsay, Elizabeth A.

Publication type:

Article

MECP2 is highly mutated in X-linked mental retardation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 941, doi. 10.1093/hmg/10.9.941

By:

Couvert, Philippe;
Bienvenu, Thierry;
Aquaviva, Cecile;
Poirier, Karine;
Moraine, Claude;
Gendrot, Chantal;
Verloes, Alain;
Andrès, Christian;
Le Fevre, Anne Celine;
Souville, Isabelle;
Steffann, Julie;
des Portes, Vincent;
Ropers, Hans-Hilger;
Yntema, Helger G.;
Fryns, Jean-Pierre;
Briault, Sylvain;
Chelly, Jamel

Publication type:

Article

Connexin 31 ( GJB3 ) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 947, doi. 10.1093/hmg/10.9.947

By:

López-Bigas, Núria;
Olivé, Montserrat;
Rabionet, Raquel;
Ben-David, Orit;
Martínez-Matos, Juan Antonio;
Bravo, Olga;
Banchs, Isabel;
Volpini, Victor;
Gasparini, Paolo;
Avraham, Karen B.;
Ferrer, Isidre;
Arbonés, Maria Lourdes;
Estivill, Xavier

Publication type:

Article

Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 911, doi. 10.1093/hmg/10.9.911

By:

Singh, Sanjaya

Publication type:

Article

Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q.

Published in:: Human Molecular Genetics, 2001, v. 10, n. 9, p. 973, doi. 10.1093/hmg/10.9.973
Publication type:: Article

Inducible expression of mutant α -synuclein decreases proteasome activity and increases sensitivity to mitochondria-dependent apoptosis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 919, doi. 10.1093/hmg/10.9.919

By:

Tanaka, Yuji;
Engelender, Simone;
Igarashi, Shuichi;
Rao, Raghuram K.;
Wanner, Tracy;
Tanzi, Rudolph E.;
Sawa, Akira;
L. Dawson, Valina;
Dawson, Ted M.;
Ross, Christopher A.

Publication type:

Article

Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 953, doi. 10.1093/hmg/10.9.953

By:

Elomaa, Outi

Publication type:

Article

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 9, p. 983, doi. 10.1093/hmg/10.9.983

By:

Saarela, Jani;
Laine, Minna;
Oinonen, Carita;
Schantz, Carina von;
Jalanko, Anu;
Rouvinen, Juha;
Peltonen, Leena

Publication type:

Article