Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 5

Results: 14

KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 5, p. 942, doi. 10.1093/hmg/ddx009

By:

Darwich, Rami;
Wenjuan Li;
Yamak, Abir;
Komati, Hiba;
Andelfinger, Gregor;
Kun Sun;
Nemer, Mona

Publication type:

Article

SMN deficiency negatively impacts red pulp macrophages and spleen development in mouse models of spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 5, p. 932, doi. 10.1093/hmg/ddx008

By:

Khairallah, Marie-Therese;
Astroski, Jacob;
Custer, Sarah K.;
Androphy, Elliot J.;
Franklin, Craig L.;
Lorson, Christian L.

Publication type:

Article

Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 5, p. 873, doi. 10.1093/hmg/ddx003

By:

Clayton, Emma L.;
Mancuso, Renzo;
Nielsen, Troels Tolstrup;
Mizielinska, Sarah;
Holmes, Holly;
Powell, Nicholas;
Norona, Frances;
Larsen, Jytte Overgaard;
Milioto, Carmelo;
Wilson, Katherine M.;
Lythgoe, Mark F.;
Ourselin, Sebastian;
Nielsen, Jörgen E.;
Johannsen, Peter;
Holm, Ida;
Collinge, John;
FReJA;
Oliver, Peter L.;
Gomez-Nicola, Diego;
Isaacs, Adrian M.

Publication type:

Article

Increased NBCn1 expression, Na+/HCO3- co-transport and intracellular pH in human vascular smooth muscle cells with a risk allele for hypertension.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 5, p. 989, doi. 10.1093/hmg/ddx015

By:

Fu Liang Ng;
Ebbe Boedtkjer;
Kate Witkowska;
Meixia Ren;
Ruoxin Zhang;
Tucker, Arthur;
Aalkjær, Christian;
Caulfield, Mark J.;
Shu Ye

Publication type:

Article

Progranulin regulates lysosomal function and biogenesis through acidification of lysosomes.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 5, p. 969, doi. 10.1093/hmg/ddx011

By:

Yoshinori Tanaka;
Genjiro Suzuki;
Takashi Matsuwaki;
Masato Hosokawa;
Geidy Serrano;
Beach, Thomas G.;
Keitaro Yamanouchi;
Masato Hasegawa;
Masugi Nishihara

Publication type:

Article

Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 5, p. 955, doi. 10.1093/hmg/ddx010

By:

Xiao-Yan Zhang;
Junxia Qi;
Yu-Qian Shen;
Xian Liu;
An Liu;
Zikai Zhou;
Junhai Han;
Zi Chao Zhang

Publication type:

Article

Intraflagellar transport 88 (IFT88) is crucial for craniofacial development in mice and is a candidate gene for human cleft lip and palate.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 5, p. 860, doi. 10.1093/hmg/ddx002

By:

Hua Tian;
Jifan Feng;
Jingyuan Li;
Thach-Vu Ho;
Yuan Yuan;
Yang Liu;
Brindopke, Frederick;
Figueiredo, Jane C.;
Magee III, William;
Sanchez-Lara, Pedro A.;
Yang Chai

Publication type:

Article

Cyclodextrin has conflicting actions on autophagy flux in vivo in brains of normal and Alzheimer model mice.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 5, p. 843, doi. 10.1093/hmg/ddx001

By:

Dun-Sheng Yang;
Stavrides, Philip;
Kumar, Asok;
Ying Jiang;
Mohan, Panaiyur S.;
Masuo Ohno;
Dobrenis, Kostantin;
Davidson, Cristin D.;
Mitsuo Saito;
Pawlik, Monika;
Chunfeng Huo;
Walkley, Steven U.;
Nixon, Ralph A.

Publication type:

Article

Brain ventriculomegaly in Down syndrome mice is caused by Pcp4 dose-dependent cilia dysfunction.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 5, p. 923, doi. 10.1093/hmg/ddx007

By:

Matthieu Raveau;
Takashi Nakahari;
Sachie Asada;
Keiichi Ishihara;
Kenji Amano;
Atsushi Shimohata;
Haruhiko Sago;
Kazuhiro Yamakawa

Publication type:

Article

High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 5, p. 913, doi. 10.1093/hmg/ddx006

By:

Ament, Seth A.;
Pearl, Jocelynn R.;
Grindeland, Andrea;
Claire, Jason St.;
Earls, John C.;
Kovalenko, Marina;
Gillis, Tammy;
Mysore, Jayalakshmi;
Gusella, James F.;
Jong-Min Lee;
Seung Kwak;
Howland, David;
Min Young Lee;
Baxter, David;
Scherler, Kelsey;
Kai Wang;
Geman, Donald;
Carroll, Jeffrey B.;
MacDonald, Marcy E.;
Carlson, George

Publication type:

Article

The Y-located proto-oncogene TSPY exacerbates and its X-homologue TSPX inhibits transactivation functions of androgen receptor and its constitutively active variants.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 5, p. 901, doi. 10.1093/hmg/ddx005

By:

Yunmin Li;
Dong Ji Zhang;
Yun Qiu;
Tatsuo Kido;
Yun-Fai Chris Lau

Publication type:

Article

High dietary folate in pregnant mice leads to pseudo-MTHFR deficiency and altered methyl metabolism, with embryonic growth delay and short-term memory impairment in offspring.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 5, p. 888, doi. 10.1093/hmg/ddx004

By:

Bahous, Renata H.;
Jadavji, Nafisa M.;
Deng, Liyuan;
Cosín-Tomás, Marta;
Lu, Jessica;
Malysheva, Olga;
Kit-Yi Leung;
Ming-Kai Ho;
Pallás, Mercè;
Kaliman, Perla;
Greene, Nicholas D. E.;
Bedell, Barry J.;
Caudill, Marie A.;
Rozen, Rima

Publication type:

Article

Quantifying the extent to which index event biases influence large genetic association studies.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 5, p. 1018, doi. 10.1093/hmg/ddw433

By:

Yaghootkar, Hanieh;
Bancks, Michael P.;
Jones, Sam E.;
McDaid, Aaron;
Beaumont, Robin;
Donnelly, Louise;
Wood, Andrew R.;
Campbell, Archie;
Tyrrell, Jessica;
Hocking, Lynne J.;
Tuke, Marcus A.;
Ruth, Katherine S.;
Pearson, Ewan R.;
Murray, Anna;
Freathy, Rachel M.;
Munroe, Patricia B.;
Hayward, Caroline;
Palmer, Colin;
Weedon, Michael N.;
Pankow, James S.

Publication type:

Article

Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosus.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 5, p. 1003, doi. 10.1093/hmg/ddw417

By:

Odhams, Christopher A.;
Cortini, Andrea;
Lingyan Chen;
Roberts, Amy L.;
Viñuela, Ana;
Buil, Alfonso;
Small, Kerrin S.;
Dermitzakis, Emmanouil T.;
Morris, David L.;
Vyse, Timothy J.;
Graham, Deborah S. Cunninghame

Publication type:

Article