Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 15

Results: 12

Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 15, p. 2549, doi. 10.1093/hmg/ddz078

By:

Jirka, Caroline;
Pak, Jasmine H;
Grosgogeat, Claire A;
Marchetii, Michael Mario;
Gupta, Vandana A

Publication type:

Article

novel human stem cell model for Coffin–Siris syndrome-like syndrome reveals the importance of SOX11 dosage for neuronal differentiation and survival.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 15, p. 2589, doi. 10.1093/hmg/ddz089

By:

Turan, Soeren;
Boerstler, Tom;
Kavyanifar, Atria;
Loskarn, Sandra;
Reis, André;
Winner, Beate;
Lie, Dieter Chichung

Publication type:

Article

multi-ancestry genome-wide study incorporating gene–smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 15, p. 2615, doi. 10.1093/hmg/ddz070

By:

Sung, Yun Ju;
de las Fuentes, Lisa;
Winkler, Thomas W;
Chasman, Daniel I;
Bentley, Amy R;
Kraja, Aldi T;
Ntalla, Ioanna;
Warren, Helen R;
Guo, Xiuqing;
Schwander, Karen;
Manning, Alisa K;
Brown, Michael R;
Aschard, Hugues;
Feitosa, Mary F;
Franceschini, Nora;
Lu, Yingchang;
Cheng, Ching-Yu;
Sim, Xueling;
Vojinovic, Dina;
Marten, Jonathan

Publication type:

Article

Dynll1 is essential for development and promotes endochondral bone formation by regulating intraflagellar dynein function in primary cilia.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 15, p. 2573, doi. 10.1093/hmg/ddz083

By:

King, Ashleigh;
Hoch, Nicolas C;
McGregor, Narelle E;
Sims, Natalie A;
Smyth, Ian M;
Heierhorst, Jörg

Publication type:

Article

Occupational exposure to gases/fumes and mineral dust affect DNA methylation levels of genes regulating expression.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 15, p. 2477, doi. 10.1093/hmg/ddz067

By:

Plaat, Diana A van der;
Vonk, Judith M;
Terzikhan, Natalie;
Jong, Kim de;
Vries, Maaike de;
Gemert, Sacha La Bastide-van;
Diemen, Cleo C van;
Lahousse, Lies;
Brusselle, Guy G;
Nedeljkovic, Ivana;
Amin, Najaf;
Consortium, BIOS;
Kromhout, Hans;
Vermeulen, Roel C H;
Postma, Dirkje S;
Duijn, Cornelia M van;
Boezen, H Marike

Publication type:

Article

lysosomal disease caused by mutant VPS33A.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 15, p. 2514, doi. 10.1093/hmg/ddz077

By:

Pavlova, Elena V;
Shatunov, Aleksey;
Wartosch, Lena;
Moskvina, Alena I;
Nikolaeva, Lena E;
Bright, Nicholas A;
Tylee, Karen L;
Church, Heather J;
Ballabio, Andrea;
Luzio, J Paul;
Cox, Timothy M

Publication type:

Article

Genome-wide analysis revealed sex-specific gene expression in asthmatics.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 15, p. 2600, doi. 10.1093/hmg/ddz074

By:

Gautam, Yadu;
Afanador, Yashira;
Abebe, Tilahun;
López, Javier E;
Mersha, Tesfaye B

Publication type:

Article

de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 15, p. 2501, doi. 10.1093/hmg/ddz072

By:

Goos, Jacqueline A C;
Vogel, Walter K;
Mlcochova, Hana;
Millard, Christopher J;
Esfandiari, Elahe;
Selman, Wisam H;
Calpena, Eduardo;
Koelling, Nils;
Carpenter, Evan L;
Swagemakers, Sigrid M A;
Spek, Peter J van der;
Filtz, Theresa M;
Schwabe, John W R;
Iwaniec, Urszula T;
Mathijssen, Irene M J;
Leid, Mark;
Twigg, Stephen R F

Publication type:

Article

Amyotrophic lateral sclerosis-associated TDP-43 mutation Q331K prevents nuclear translocation of XRCC4-DNA ligase 4 complex and is linked to genome damage-mediated neuronal apoptosis.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 15, p. 2459, doi. 10.1093/hmg/ddz062

By:

Guerrero, Erika N;
Mitra, Joy;
Wang, Haibo;
Rangaswamy, Suganya;
Hegde, Pavana M;
Basu, Priyadarshini;
Rao, K S;
Hegde, Muralidhar L

Publication type:

Article

protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 15, p. 2531, doi. 10.1093/hmg/ddz075

By:

Berner, Daniel;
Hoja, Ursula;
Zenkel, Matthias;
Ross, James Julian;
Uebe, Steffen;
Paoli, Daniela;
Frezzotti, Paolo;
Rautenbach, Robyn M;
Ziskind, Ari;
Williams, Susan E;
Carmichael, Trevor R;
Ramsay, Michele;
Topouzis, Fotis;
Chatzikyriakidou, Anthi;
Lambropoulos, Alexandros;
Sundaresan, Periasamy;
Ayub, Humaira;
Akhtar, Farah;
Qamar, Raheel;
Zenteno, Juan C

Publication type:

Article

Postnatal development of mice with combined genetic depletions of lamin A/C, emerin and lamina-associated polypeptide 1.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 15, p. 2486, doi. 10.1093/hmg/ddz082

By:

Wang, Yuexia;
Shin, Ji-Yeon;
Nakanishi, Koki;
Homma, Shunichi;
Kim, Grace J;
Tanji, Kurenai;
Joseph, Leroy C;
Morrow, John P;
Stewart, Colin L;
Dauer, Willian T;
Worman, Howard J

Publication type:

Article

Targeted knock-in mice with a human mutation in GRTH/DDX25 reveals the essential role of phosphorylated GRTH in spermatid development during spermatogenesis.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 15, p. 2561, doi. 10.1093/hmg/ddz079

By:

Kavarthapu, Raghuveer;
Anbazhagan, Rajakumar;
Raju, Murugananthkumar;
Morris, Chon-Hwa Tsai;
Pickel, James;
Dufau, Maria L

Publication type:

Article