Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 15

Results: 16

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 15, p. 2739, doi. 10.1093/hmg/ddy183

By:

Torraco, Alessandra;
Stehling, Oliver;
Stümpfig, Claudia;
Rösser, Ralf;
Rasmo, Domenico De;
Fiermonte, Giuseppe;
Verrigni, Daniela;
Rizza, Teresa;
Vozza, Angelo;
Nottia, Michela Di

Publication type:

Article

Loss of cerebellar glutamate transporters EAAT4 and GLAST differentially affects the spontaneous firing pattern and survival of Purkinje cells.

Published in:: Human Molecular Genetics, 2018, v. 27, n. 15, p. 2614, doi. 10.1093/hmg/ddy169
Publication type:: Article

tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis–Cincinnati type.

Published in:: Human Molecular Genetics, 2018, v. 27, n. 15, p. 2628, doi. 10.1093/hmg/ddy172
Publication type:: Article

Assessment of rosacea symptom severity by genome-wide association study and expression analysis highlights immuno-inflammatory and skin pigmentation genes.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 15, p. 2762, doi. 10.1093/hmg/ddy184

By:

Aponte, Jennifer L;
Chiano, Mathias N;
Yerges-Armstrong, Laura M;
Hinds, David A;
Tian, Chao;
Gupta, Akanksha;
Guo, Cong;
Fraser, Dana J;
Freudenberg, Johannes M;
Rajpal, Deepak K

Publication type:

Article

Double hits in schizophrenia.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 15, p. 2755, doi. 10.1093/hmg/ddy175

By:

Vorstman, Jacob A S;
Loohuis, Loes M Olde;
Investigators, GROUP;
Kahn, René S;
Ophoff, Roel A;
investigators, GROUP

Publication type:

Article

Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 15, p. 2678, doi. 10.1093/hmg/ddy178

By:

Kremlitzka, Mariann;
Geerlings, Maartje J;
Jong, Sarah de;
Bakker, Bjorn;
Nilsson, Sara C;
Fauser, Sascha;
Hoyng, Carel B;
Jong, Eiko K de;
Hollander, Anneke I den;
Blom, Anna M

Publication type:

Article

Immunoglobulin profiling identifies unique signatures in patients with Kawasaki disease during intravenous immunoglobulin treatment.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 15, p. 2671, doi. 10.1093/hmg/ddy176

By:

Ko, Tai-Ming;
Kiyotani, Kazuma;
Chang, Jeng-Sheng;
Park, Jae-Hyun;
Yew, Poh Yin;
Chen, Yuan-Tsong;
Wu, Jer-Yuarn;
Nakamura, Yusuke

Publication type:

Article

Interaction of AIP with protein kinase A (cAMP-dependent protein kinase).

Published in:

Human Molecular Genetics, 2018, v. 27, n. 15, p. 2604, doi. 10.1093/hmg/ddy166

By:

Schernthaner-Reiter, Marie Helene;
Trivellin, Giampaolo;
Stratakis, Constantine A

Publication type:

Article

BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 15, p. 2712, doi. 10.1093/hmg/ddy181

By:

Hasumi, Hisashi;
Furuya, Mitsuko;
Tatsuno, Kenji;
Yamamoto, Shogo;
Baba, Masaya;
Hasumi, Yukiko;
Isono, Yasuhiro;
Suzuki, Kae;
Jikuya, Ryosuke;
Otake, Shinji

Publication type:

Article

Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 15, p. 2644, doi. 10.1093/hmg/ddy173

By:

Lim, Jong-Won;
Wong, Chao-Jen;
Yao, Zizhen;
Tawil, Rabi;
Maarel, Silvère M van der;
Miller, Daniel G;
Tapscott, Stephen J;
Filippova, Galina N

Publication type:

Article

C9ORF72 dipeptide repeat poly-GA inclusions promote intracellular aggregation of phosphorylated TDP-43.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 15, p. 2658, doi. 10.1093/hmg/ddy174

By:

Nonaka, Takashi;
Masuda-Suzukake, Masami;
Hosokawa, Masato;
Shimozawa, Aki;
Hirai, Shinobu;
Okado, Haruo;
Hasegawa, Masato

Publication type:

Article

Variable rescue of microtubule and physiological phenotypes in mdx muscle expressing different miniaturized dystrophins.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 15, p. 2773, doi. 10.1093/hmg/ddy209

By:

Nelson, D’anna M;
Lindsay, Angus;
Judge, Luke M;
Duan, Dongsheng;
Chamberlain, Jeffrey S;
Lowe, Dawn A;
Ervasti, James M

Publication type:

Article

Defining the impact of melanopsin missense polymorphisms using in vivo functional rescue.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 15, p. 2589, doi. 10.1093/hmg/ddy150

By:

Rodgers, Jessica;
Hughes, Steven;
Pothecary, Carina A;
Brown, Laurence A;
Hickey, Doron G;
Peirson, Stuart N;
Hankins, Mark W

Publication type:

Article

Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 15, p. 2689, doi. 10.1093/hmg/ddy179

By:

Barny, Iris;
Perrault, Isabelle;
Michel, Christel;
Soussan, Mickael;
Goudin, Nicolas;
Rio, Marlène;
Thomas, Sophie;
Attié-Bitach, Tania;
Hamel, Christian;
Dollfus, Hélène

Publication type:

Article

Fingolimod phosphate inhibits astrocyte inflammatory activity in mucolipidosis IV.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 15, p. 2725, doi. 10.1093/hmg/ddy182

By:

Weinstock, Laura D;
Furness, Amanda M;
Herron, Shawn S;
Smith, Sierra S;
Sankar, Sitara B;
DeRosa, Samantha G;
Gao, Dadi;
Mepyans, Molly E;
Rosato, Anna Scotto;
Medina, Diego L

Publication type:

Article

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 15, p. 2703, doi. 10.1093/hmg/ddy180

By:

Ansar, Muhammad;
Chung, Hyunglok;
Waryah, Yar M;
Makrythanasis, Periklis;
Falconnet, Emilie;
Rao, Ali Raza;
Guipponi, Michel;
Narsani, Ashok K;
Fingerhut, Ralph;
Santoni, Federico A

Publication type:

Article