Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 5

Results: 14

miR-96 is required for normal development of the auditory hindbrain.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 5, p. 860, doi. 10.1093/hmg/ddy007

By:

Schlüter, Tina;
Berger, Christina;
Rosengauer, Elena;
Fieth, Pascal;
Krohs, Constanze;
Ushakov, Kathy;
Steel, Karen P.;
Avraham, Karen B.;
Hartmann, Alexander K.;
Felmy, Felix;
Nothwang, Hans Gerd

Publication type:

Article

Use of deep whole-genome sequencing data to identify structure risk variants in breast cancer susceptibility genes.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 5, p. 853, doi. 10.1093/hmg/ddy005

By:

Xingyi Guo;
Jiajun Shi;
Qiuyin Cai;
Xiao-Ou Shu;
Jing He;
Wanqing Wen;
Allen, Jamie;
Pharoah, Paul;
Dunning, Alison;
Hunter, David J.;
Kraft, Peter;
Easton, Douglas F.;
Wei Zheng;
Jirong Long

Publication type:

Article

Genetic and clinical evidence of mitochondrial dysfunction in autism spectrum disorder and intellectual disability.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 5, p. 891, doi. 10.1093/hmg/ddy009

By:

Valiente-Pallejà, Alba;
Torrell, Helena;
Muntané, Gerard;
Cortés, Maria J.;
Martínez-Leal, Rafael;
Abasolo, Nerea;
Alonso, Yolanda;
Vilella, Elisabet;
Martorell, Lourdes

Publication type:

Article

Circulating microRNAs as potential biomarkers of disease activity and structural damage in ankylosing spondylitis patients.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 5, p. 875, doi. 10.1093/hmg/ddy008

By:

Perez-Sanchez, Carlos;
Font-Ugalde, Pilar;
Ruiz-Limon, Patricia;
Lopez-Pedrera, Chary;
Castro-Villegas, Maria C.;
Abalos-Aguilera, Maria C.;
Barbarroja, Nuria;
la Rosa, Ivan Arias-de;
Lopez-Montilla, Maria D.;
Escudero-Contreras, Alejandro;
Lopez-Medina, Clementina;
Collantes-Estevez, Eduardo;
Jimenez-Gomez, Yolanda

Publication type:

Article

Cytosolic HSC20 integrates de novo iron-sulfur cluster biogenesis with the CIAO1-mediated transfer to recipients.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 5, p. 837, doi. 10.1093/hmg/ddy004

By:

Ki Soon Kim;
Maio, Nunziata;
Singh, Anamika;
Rouault, Tracey A.

Publication type:

Article

CORRIGENDUM: A genome-wide association study identifies nucleotide variants at SIGLEC5 and DEFA1A3 as risk loci for periodontitis.

Published in:: Human Molecular Genetics, 2018, v. 27, n. 5, p. 941, doi. 10.1093/hmg/ddy015
Publication type:: Article

Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 5, p. 901, doi. 10.1093/hmg/ddy010

By:

Gorvin, Caroline M.;
Metpally, Raghu;
Stokes, Victoria J.;
Hannan, Fadil M.;
Krishnamurthy, Sarath B.;
Overton, John D.;
Reid, Jeffrey G.;
Breitwieser, Gerda E.;
Thakker, Rajesh V.

Publication type:

Article

Parkinson's disease-linked DNAJC13 mutation aggravates alpha-synuclein-induced neurotoxicity through perturbation of endosomal trafficking.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 5, p. 823, doi. 10.1093/hmg/ddy003

By:

Shun Yoshida;
Takafumi Hasegawa;
Mari Suzuki;
Naoto Sugeno;
Junpei Kobayashi;
Morio Ueyama;
Mitsunori Fukuda;
Akemi Ido-Fujibayashi;
Kiyotoshi Sekiguchi;
Michinori Ezura;
Akio Kikuchi;
Toru Baba;
Atsushi Takeda;
Hideki Mochizuki;
Yoshitaka Nagai;
Masashi Aoki

Publication type:

Article

Genetic variants influencing phenotypic variance heterogeneity.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 5, p. 799, doi. 10.1093/hmg/ddx441

By:

Ek, Weronica E.;
Rask-Andersen, Mathias;
Karlsson, Torgny;
Enroth, Stefan;
Gyllensten, Ulf;
Johansson, Åsa

Publication type:

Article

Genome-wide analysis of disease progression in age-related macular degeneration.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 5, p. 929, doi. 10.1093/hmg/ddy002

By:

Qi Yan;
Ying Ding;
Yi Liu;
Tao Sun;
Fritsche, Lars G.;
Clemons, Traci;
Ratnapriya, Rinki;
Klein, Michael L.;
Cook, Richard J.;
Yu Liu;
Ruzong Fan;
Lai Wei;
Abecasis, Gonçalo R.;
Swaroop, Anand;
Chew, Emily Y.;
Weeks, Daniel E.;
Wei Chen

Publication type:

Article

Impact of genetic risk loci for multiple sclerosis on expression of proximal genes in patients.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 5, p. 912, doi. 10.1093/hmg/ddy001

By:

James, Tojo;
Lindén, Magdalena;
Morikawa, Hiromasa;
Fernandes, Sunjay Jude;
Ruhrmann, Sabrina;
Huss, Mikael;
Brandi, Maya;
Piehl, Fredrik;
Jagodic, Maja;
Tegnér, Jesper;
Khademi, Mohsen;
Olsson, Tomas;
Gomez-Cabrero, David;
Kockum, Ingrid

Publication type:

Article

Gaucher disease iPSC-derived osteoblasts have developmental and lysosomal defects that impair bone matrix deposition.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 5, p. 811, doi. 10.1093/hmg/ddx442

By:

Panicker, Leelamma M.;
Srikanth, Manasa P.;
Castro-Gomes, Thiago;
Miller, Diana;
Andrews, Norma W.;
Feldman, Ricardo A.

Publication type:

Article

CDC14A phosphatase is essential for hearing and male fertility in mouse and human.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 5, p. 780, doi. 10.1093/hmg/ddx440

By:

Imtiaz, Ayesha;
Belyantseva, Inna A.;
Beirl, Alisha J.;
Fenollar-Ferrer, Cristina;
Bashir, Rasheeda;
Bukhari, Ihtisham;
Bouzid, Amal;
Shaukat, Uzma;
Azaiez, Hela;
Booth, Kevin T.;
Kahrizi, Kimia;
Najmabadi, Hossein;
Maqsood, Azra;
Wilson, Elizabeth A.;
Fitzgerald, Tracy S.;
Tlili, Abdelaziz;
Olszewski, Rafal;
Lund, Merete;
Chaudhry, Taimur;
Rehman, Atteeq U.

Publication type:

Article

Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 5, p. 761, doi. 10.1093/hmg/ddx438

By:

Giannelli, Serena G.;
Luoni, Mirko;
Castoldi, Valerio;
Massimino, Luca;
Cabassi, Tommaso;
Angeloni, Debora;
Demontis, Gian Carlo;
Leocani, Letizia;
Andreazzoli, Massimiliano;
Broccoli, Vania

Publication type:

Article