Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 20

Results: 15

Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 20, p. 3568, doi. 10.1093/hmg/ddy265

By:

Toubiana, Shir;
Velasco, Guillaume;
Chityat, Adi;
Kaindl, Angela M;
Hershtig, Noam;
Tzur-Gilat, Aya;
Francastel, Claire;
Selig, Sara

Publication type:

Article

Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 20, p. 3612, doi. 10.1093/hmg/ddy259

By:

Swaroop, Manju;
Brooks, Matthew J;
Gieser, Linn;
Swaroop, Anand;
Zheng, Wei

Publication type:

Article

Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 20, p. 3507, doi. 10.1093/hmg/ddy240

By:

Zulliger, Rahel;
Conley, Shannon M;
Mwoyosvi, Maggie L;
Al-Ubaidi, Muayyad R;
Naash, Muna I

Publication type:

Article

Mice lacking the transcobalamin-vitamin B12 receptor, CD320, suffer from anemia and reproductive deficits when fed vitamin B12-deficient diet.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 20, p. 3627, doi. 10.1093/hmg/ddy267

By:

Bernard, David J;
Pangilinan, Faith J;
Cheng, Jun;
Molloy, Anne M;
Brody, Lawrence C

Publication type:

Article

Metabotropic glutamate type 5 receptor requires contactin-associated protein 1 to control memory formation.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 20, p. 3528, doi. 10.1093/hmg/ddy264

By:

Morató, Xavier;
Luján, Rafael;
Gonçalves, Nélio;
Watanabe, Masahiko;
Altafaj, Xavier;
Carvalho, Ana Luísa;
Fernández-Dueñas, Víctor;
Cunha, Rodrigo A;
Ciruela, Francisco

Publication type:

Article

The effect of the DISC1 Ser704Cys polymorphism on striatal dopamine synthesis capacity: an [18F]-DOPA PET study.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 20, p. 3498, doi. 10.1093/hmg/ddy242

By:

Dahoun, Tarik;
Pardiñas, Antonio F;
Veronese, Mattia;
Bloomfield, Michael A P;
Jauhar, Sameer;
Bonoldi, Ilaria;
Froudist-Walsh, Sean;
Nosarti, Chiara;
Korth, Carsten;
Hennah, William

Publication type:

Article

Light modulation ameliorates expression of circadian genes and disease progression in spinal muscular atrophy mice.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 20, p. 3582, doi. 10.1093/hmg/ddy249

By:

Walter, Lisa M;
Koch, Christiane E;
Betts, Corinne A;
Ahlskog, Nina;
Meijboom, Katharina E;
Westering, Tirsa L E van;
Hazell, Gareth;
Bhomra, Amarjit;
Claus, Peter;
Oster, Henrik

Publication type:

Article

Knockout of myomaker results in defective myoblast fusion, reduced muscle growth and increased adipocyte infiltration in zebrafish skeletal muscle.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 20, p. 3542, doi. 10.1093/hmg/ddy268

By:

Shi, Jun;
Cai, Mengxin;
Si, Yufeng;
Zhang, Jianshe;
Du, Shaojun

Publication type:

Article

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. 20, p. 3650, doi. 10.1093/hmg/ddy273

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

An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 20, p. 3519, doi. 10.1093/hmg/ddy244

By:

Karjosukarso, Dyah W;
Gestel, Sebastianus H C van;
Qu, Jieqiong;
Kouwenhoven, Evelyn N;
Duijkers, Lonneke;
Garanto, Alejandro;
Zhou, Huiqing;
Collin, Rob W J

Publication type:

Article

Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 20, p. 3641, doi. 10.1093/hmg/ddy271

By:

Yengo, Loic;
Sidorenko, Julia;
Kemper, Kathryn E;
Zheng, Zhili;
Wood, Andrew R;
Weedon, Michael N;
Frayling, Timothy M;
Hirschhorn, Joel;
Yang, Jian;
Visscher, Peter M

Publication type:

Article

Dystonin-A3 upregulation is responsible for maintenance of tubulin acetylation in a less severe dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 20, p. 3598, doi. 10.1093/hmg/ddy250

By:

Lynch-Godrei, Anisha;
Repentigny, Yves De;
Gagnon, Sabrina;
Trung, My Tran;
Kothary, Rashmi

Publication type:

Article

Cone-rod homeobox CRX controls presynaptic active zone formation in photoreceptors of mammalian retina.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 20, p. 3555, doi. 10.1093/hmg/ddy272

By:

Assawachananont, Juthaporn;
Kim, Soo-Young;
Kaya, Koray D;
Fariss, Robert;
Roger, Jerome E;
Swaroop, Anand

Publication type:

Article

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers–Danlos syndrome.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 20, p. 3475, doi. 10.1093/hmg/ddy234

By:

Damme, Tim Van;
Pang, Xiaomeng;
Guillemyn, Brecht;
Gulberti, Sandrine;
Syx, Delfien;
Rycke, Riet De;
Kaye, Olivier;
Die-Smulders, Christine E M de;
Pfundt, Rolph;
Kariminejad, Ariana

Publication type:

Article

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 20, p. 3488, doi. 10.1093/hmg/ddy236

By:

Lemmers, Richard J L F;
Vliet, Patrick J van der;
Vreijling, Jeroen P;
Henderson, Don;
van der Stoep, Nienke;
Voermans, Nicol;
Engelen, Baziel van;
Baas, Frank;
Sacconi, Sabrina;
Tawil, Rabi

Publication type:

Article