Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 18

Results: 24

Genetic determinants of telomere length and risk of common cancers: a Mendelian randomization study.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5356, doi. 10.1093/hmg/ddv252

By:

Chenan Zhang;
Doherty, Jennifer A.;
Burgess, Stephen;
Hung, Rayjean J.;
Lindström, Sara;
Kraft, Peter;
Gong, Jian;
Amos, Christopher I.;
Sellers, Thomas A.;
Monteiro, Alvaro N. A.;
Chenevix-Trench, Georgia;
Bickeböller, Heike;
Risch, Angela;
Brennan, Paul;
Mckay, James D.;
Houlston, Richard S.;
Landi, Maria Teresa;
Timofeeva, Maria N.;
Yufei Wang;
Heinrich, Joachim

Publication type:

Article

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5313, doi. 10.1093/hmg/ddv250

By:

Oegema, Renske;
Cushion, Thomas D.;
Phelps, Ian G.;
Seo-Kyung Chung;
Dempsey, Jennifer C.;
Collins, Sarah;
Mullins, Jonathan G. L.;
Dudding, Tracy;
Gill, Harinder;
Green, Andrew J.;
Dobyns, William B.;
Ishak, Gisele E.;
Rees, Mark I.;
Doherty, Dan

Publication type:

Article

Increased neuronal PreP activity reduces Aβ accumulation, attenuates neuroinflammation and improves mitochondrial and synaptic function in Alzheimer disease's mouse model.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5198, doi. 10.1093/hmg/ddv241

By:

Du Fang;
Yongfu Wang;
Zhihua Zhang;
Heng Du;
Shiqiang Yan;
Qinru Sun;
Changjia Zhong;
Long Wu;
Vangavaragu, Jhansi Rani;
Shijun Yan;
Gang Hu;
Lan Guo;
Rabinowitz, Molly;
Glaser, Elzbieta;
Arancio, Ottavio;
Sosunov, Alexander A.;
McKhann, Guy M.;
Xi Chen, John;
ShiDu Yan, Shirley

Publication type:

Article

Subcellular localization and RNAs determine FUS architecture in different cellular compartments.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5174, doi. 10.1093/hmg/ddv239

By:

Liuqing Yang;
Jiayu Zhang;
Kamelgarn, Marisa;
Chunyan Niu;
Gal, Jozsef;
Weimin Gong;
Haining Zhu

Publication type:

Article

The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5326, doi. 10.1093/hmg/ddv255

By:

Mencacci, Niccolo E.;
R'bibo, Léa;
Bandres-Ciga, Sara;
Carecchio, Miryam;
Zorzi, Giovanna;
Nardocci, Nardo;
Garavaglia, Barbara;
Batla, Amit;
Bhatia, Kailash P.;
Pittman, Alan M.;
Hardy, John;
Weissbach, Anne;
Klein, Christine;
Gasser, Thomas;
Lohmann, Ebba;
Wood, Nicholas W.

Publication type:

Article

PABPN1 suppresses TDP-43 toxicity in ALS disease models.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5154, doi. 10.1093/hmg/ddv238

By:

Ching-Chieh Chou;
Alexeeva, Olga M.;
Shizuka Yamada;
Pribadi, Amy;
Yi Zhang;
Bi Mo;
Williams, Kathryn R.;
Zarnescu, Daniela C.;
Rossoll, Wilfried

Publication type:

Article

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5345, doi. 10.1093/hmg/ddv251

By:

Peterlongo, Paolo;
Catucci, Irene;
Colombo, Mara;
Caleca, Laura;
Mucaki, Eliseos;
Bogliolo, Massimo;
Marin, Maria;
Damiola, Francesca;
Bernard, Loris;
Pensotti, Valeria;
Volorio, Sara;
Dall'Olio, Valentina;
Meindl, Alfons;
Bartram, Claus;
Sutter, Christian;
Surowy, Harald;
Sornin, Valérie;
Dondon, Marie-Gabrielle;
Eon-Marchais, Séverine;
Stoppa-Lyonnet, Dominique

Publication type:

Article

Selective expression of Parkinson's disease-related Leucine-rich repeat kinase 2 G2019Smissensemutation in midbrain dopaminergic neurons impairs dopamine release and dopaminergic gene expression.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5299, doi. 10.1093/hmg/ddv249

By:

Guoxiang Liu;
Sgobio, Carmelo;
Xinglong Gu;
Lixin Sun;
Xian Lin;
Jia Yu;
Parisiadou, Loukia;
Chengsong Xie;
Sastry, Namratha;
Jinhui Ding;
Lohr, Kelly M.;
Miller, Gary W.;
Mateo, Yolanda;
Lovinger, David M.;
Huaibin Cai

Publication type:

Article

Analysis of YFP(J16)-R6/2 reportermice and postmortem brains reveals early pathology and increased vulnerability of callosal axons in Huntington's disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5285, doi. 10.1093/hmg/ddv248

By:

Gatto, Rodolfo G.;
Yaping Chu;
Ye, Allen Q.;
Price, Steven D.;
Tavassoli, Ehsan;
Buenaventura, Andrea;
Brady, Scott T.;
Magin, Richard L.;
Kordower, Jeffrey H.;
Morfini, Gerardo A.

Publication type:

Article

Diabetogenic milieus induce specific changes in mitochondrial transcriptome and differentiation of human pancreatic islets.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5270, doi. 10.1093/hmg/ddv247

By:

Brun, Thierry;
Ning Li;
Jourdain, Alexis A.;
Gaudet, Pascale;
Duhamel, Dominique;
Meyer, Jérémy;
Bosco, Domenico;
Maechler, Pierre

Publication type:

Article

Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5260, doi. 10.1093/hmg/ddv246

By:

Sposito, Teresa;
Preza, Elisavet;
Mahoney, Colin J.;
Setó-Salvia, Núria;
Ryan, Natalie S.;
Morris, Huw R.;
Arber, Charles;
Devine, Michael J.;
Houlden, Henry;
Warner, Thomas T.;
Bushell, Trevor J.;
Zagnoni, Michele;
Kunath, Tilo;
Livesey, Frederick J.;
Fox, Nick C.;
Rossor, Martin N.;
Hardy, John;
Wray, Selina

Publication type:

Article

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5250, doi. 10.1093/hmg/ddv245

By:

Chuan Tan;
Shard, Chloe;
Ranieri, Enzo;
Hynes, Kim;
Pham, Duyen H.;
Leach, Damian;
Buchanan, Grant;
Corbett, Mark;
Shoubridge, Cheryl;
Kumar, Raman;
Douglas, Evelyn;
Nguyen, Lam S.;
Mcmahon, Jacinta;
Sadleir, Lynette;
Specchio, Nicola;
Marini, Carla;
Guerrini, Renzo;
Moller, Rikke S.;
Depienne, Christel;
Haan, Eric

Publication type:

Article

FANCB is essential in the male germline and regulates H3K9 methylation on the sex chromosomes during meiosis.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5234, doi. 10.1093/hmg/ddv244

By:

Yasuko Kato;
Alavattam, Kris G.;
Ho-Su Sin;
Meeteim, Amom Ruhikanta;
Pang, Qishen;
Andreassen, Paul R.;
Satoshi H. Namekawa

Publication type:

Article

Identification of a novel MKS locus defined by TMEM107 mutation.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5211, doi. 10.1093/hmg/ddv242

By:

Shaheen, Ranad;
Almoisheer, Agaadir;
Faqeih, Eissa;
Babay, Zainab;
Monies, Dorota;
Tassan, Nada;
Abouelhoda, Mohamed;
Kurdi, Wesam;
Al Mardawi, Elham;
Khalil, Mohamed M. I.;
Seidahmed, Mohammed Zain;
Alnemer, Maha;
Alsahan, Nada;
Sogaty, Samira;
Alhashem, Amal;
Singh, Ankur;
Goyal, Manisha;
Kapoor, Seema;
Alomar, Rana;
Ibrahim, Niema

Publication type:

Article

Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5219, doi. 10.1093/hmg/ddv243

By:

Li, Frank;
Buck, Danielle;
De Winter, Josine;
Kolb, Justin;
Hui Meng;
Birch, Camille;
Slater, Rebecca;
Natelie Escobar, Yael;
Smith III, John E.;
Lin Yang;
Konhilas, John;
Lawlor, Michael W.;
Ottenheijm, Coen;
Granzier, Henk L.

Publication type:

Article

Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations in ABCC8.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5142, doi. 10.1093/hmg/ddv233

By:

Nessa, Azizun;
Aziz, Qadeer H.;
Thomas, Alison M.;
Harmer, Stephen C.;
Tinker, Andrew;
Hussain, Khalid

Publication type:

Article

POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5184, doi. 10.1093/hmg/ddv240

By:

Young, Matthew J.;
Humble, Margaret M.;
DeBalsi, Karen L.;
Sun, Kathie Y.;
Copeland, William C.

Publication type:

Article

Regulation of SPRY3 by X chromosome and PAR2-linked promoters in an autism susceptibility region.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5126, doi. 10.1093/hmg/ddv231

By:

Zhenfei Ning;
McLellan, Andrew S.;
Ball, Melanie;
Wynne, Freda;
O'Neill, Cora;
Mills, Walter;
Quinn, John P.;
Kleinjan, Dirk A.;
Anney, Richard J.;
Carmody, Ruaidhre J.;
O'Keeffe, Gerard;
Moore, Tom

Publication type:

Article

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype--phenotype correlations, codon bias and dominant-negative effects.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5079, doi. 10.1093/hmg/ddv226

By:

Hannan, Fadil M.;
Howies, Sarah A.;
Rogers, Angela;
Cranston, Treena;
Gorvin, Caroline M.;
Babinsky, Valerie N.;
Reed, Anita A.;
Thakker, Clare E.;
Bockenhauer, Detlef;
Brown, Rosalind S.;
Connell, John M.;
Cook, Jacqueline;
Darzy, Ken;
Ehtisham, Sarah;
Graham, Una;
Hulse, Tony;
Hunter, Steven J.;
Izatt, Louise;
Kumar, Dhavendra;
McKenna, Malachi J.

Publication type:

Article

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5109, doi. 10.1093/hmg/ddv229

By:

Sawyer, Sarah L.;
Cheuk-Him Ng, Andy;
Innes, A. Micheil;
Wagner, Justin D.;
Dyment, David A.;
Tetreault, Martine;
Majewski, Jacek;
Boycott, Kym M.;
Screaton, Robert A.;
Nicholson, Garth

Publication type:

Article

Novel epigenetic determinants of type 2 diabetes in Mexican-American families.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5330, doi. 10.1093/hmg/ddv232

By:

Kulkarni, Hemant;
Kos, Mark Z.;
Neary, Jennifer;
Dyer, Thomas D.;
Kent Jr, Jack W.;
Göring, Harald H. H.;
Cole, Shelley A.;
Comuzzie, Anthony G.;
Almasy, Laura;
Mahaney, Michael C.;
Curran, Joanne E.;
Blangero, John;
Carless, Melanie A.

Publication type:

Article

Mice expressing reduced levels of hepatic glucose-6-phosphatase-α activity do not develop age-related insulin resistance or obesity.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5115, doi. 10.1093/hmg/ddv230

By:

Goo-Young Kim;
Young Mok Lee;
Jun-Ho Cho;
Chi-Jiunn Pan;
Hyun Sik Jun;
Springer, Danielle A.;
Mansfield, Brian C.;
Chou, Janice Y.

Publication type:

Article

AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5093, doi. 10.1093/hmg/ddv227

By:

Virts, Elizabeth L.;
Jankowska, Anna;
Mackay, Craig;
Glaas, Marcel F.;
Wiek, Constanze;
Kelich, Stephanie L.;
Lottmann, Nadine;
Kennedy, Felicia M.;
Marchal, Christophe;
Lehnert, Erik;
Scharf, Rüdiger E.;
Dufour, Carlo;
Lanciotti, Marina;
Farruggia, Piero;
Santoro, Alessandra;
Savasan, Süreyya;
Scheckenbach, Kathrin;
Schipper, Jörg;
Wagenmann, Martin;
Lewis, Todd

Publication type:

Article

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5069, doi. 10.1093/hmg/ddv225

By:

Körberg, Izabella Baranowska;
Hofmeister, Wolfgang;
Markljung, Ellen;
Jia Cao;
Nilsson, Daniel;
Ludwig, Michael;
Draaken, Markus;
Holmdahl, Gundela;
Barker, Gillian;
Reutter, Heiko;
Vukojević, Vladana;
Kockum, Christina Clementson;
Lundin, Johanna;
Lindstrand, Anna;
Nordenskjöld, Agneta

Publication type:

Article