Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 7

Results: 17

A tri-serine cluster within the topoisomerase IIα-interaction domain of the BLM helicase is required for regulating chromosome breakage in human cells.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 7, p. 1241, doi. 10.1093/hmg/ddy038

By:

Behnfeldt, Julia Harris;
Acharya, Samir;
Tangeman, Larissa;
Gocha, April Sandy;
Keirsey, Jeremy;
Groden, Joanna Groden

Publication type:

Article

Testicular MTHFR deficiency may explain sperm DNA hypomethylation associated with high dose folic acid supplementation.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 7, p. 1123, doi. 10.1093/hmg/ddy021

By:

Aarabi, Mahmoud;
Christensen, Karen E.;
Chan, Donovan;
Leclerc, Daniel;
Landry, Mylène;
Ly, Lundi;
Rozen, Rima;
Trasler, Jacquetta

Publication type:

Article

Astrocytes: new players in progressive myoclonus epilepsy of Lafora type.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 7, p. 1290, doi. 10.1093/hmg/ddy044

By:

Rubio-Villena, Carla;
Viana, Rosa;
Bonet, Jose;
Garcia-Gimeno, Maria Adelaida;
Casado, Marta;
Heredia, Miguel;
Sanz, Pascual

Publication type:

Article

A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

Published in:: Human Molecular Genetics, 2018, v. 27, n. 7, p. 1310, doi. 10.1093/hmg/ddy049
Publication type:: Article

Differentially expressed microRNAs in the aqueous humor of patients with exfoliation glaucoma or primary open-angle glaucoma.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 7, p. 1263, doi. 10.1093/hmg/ddy040

By:

Drewry, Michelle D.;
Challa, Pratap;
Kuchtey, John G.;
Navarro, Iris;
Helwa, Inas;
Yanzhong Hu;
Hongmei Mu;
Stamer, W. Daniel;
Kuchtey, Rachel W.;
Yutao Liu

Publication type:

Article

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 7, p. 1228, doi. 10.1093/hmg/ddy037

By:

Portnoi, Marie-France;
Dumargne, Marie-Charlotte;
Rojo, Sandra;
Witchel, Selma F.;
Duncan, Andrew J.;
Eozenou, Caroline;
Bignon-Topalovic, Joelle;
Yatsenko, Svetlana A.;
Rajkovic, Aleksandar;
Reyes-Mugica, Miguel;
Almstrup, Kristian;
Fusee, Leila;
Srivastava, Yogesh;
Chantot-Bastaraud, Sandra;
Hyon, Capucine;
Louis-Sylvestre, Christine;
Validire, Pierre;
de Malleray Pichard, Caroline;
Ravel, Celia;
Christin-Maitre, Sophie

Publication type:

Article

Elongator subunit 3 (ELP3) modifies ALS through tRNA modification.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 7, p. 1276, doi. 10.1093/hmg/ddy043

By:

Bento-Abreu, Andre;
Jager, Gunilla;
Swinnen, Bart;
Rué, Laura;
Hendrickx, Stijn;
Jones, Ashley;
Staats, Kim A.;
Taes, Ines;
Eykens, Caroline;
Nonneman, Annelies;
Nuyts, Rik;
Timmers, Mieke;
Silva, Lara;
Chariot, Alain;
Nguyen, Laurent;
Ravits, John;
Lemmens, Robin;
Cabooter, Deirdre;
Van Den Bosch, Ludo;
Van Damme, Philip

Publication type:

Article

Human cis-acting elements regulating escape from X-chromosome inactivation function in mouse.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 7, p. 1252, doi. 10.1093/hmg/ddy039

By:

Peeters, Samantha B.;
Korecki, Andrea J.;
Simpson, Elizabeth M.;
Brown, Carolyn J.

Publication type:

Article

Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 7, p. 1212, doi. 10.1093/hmg/ddy035

By:

Estruch, Sara B.;
Graham, Sarah A.;
Quevedo, Martí;
Vino, Arianna;
Dekkers, Dick H. W.;
Deriziotis, Pelagia;
Sollis, Elliot;
Demmers, Jeroen;
Poot, Raymond A.;
Fisher, Simon E.

Publication type:

Article

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 7, p. 1186, doi. 10.1093/hmg/ddy033

By:

Bartsakoulia, Marina;
Pyle, Angela;
Troncoso-Chandía, Diego;
Vial-Brizzi, Josefa;
Paz-Fiblas, Marysol V.;
Duff, Jennifer;
Griffin, Helen;
Boczonadi, Veronika;
Lochmüller, Hanns;
Kleinle, Stephanie;
Chinnery, Patrick F.;
Grünert, Sarah;
Kirschner, Janbernd;
Eisner, Verónica;
Horvath, Rita

Publication type:

Article

CHEK1 coordinates DNA damage signaling and meiotic progression in the male germline of mice.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 7, p. 1136, doi. 10.1093/hmg/ddy022

By:

Hironori Abe;
Alavattam, Kris G.;
Yasuko Kato;
Castrillon, Diego H.;
Qishen Pang;
Andreassen, Paul R.;
Namekawa, Satoshi H.

Publication type:

Article

Psychosocial adversity and socioeconomic position during childhood and epigenetic age: analysis of two prospective cohort studies.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 7, p. 1301, doi. 10.1093/hmg/ddy036

By:

Lawn, Rebecca B.;
Anderson, Emma L.;
Suderman, Matthew;
Simpkin, Andrew J.;
Gaunt, Tom R.;
Teschendorff, Andrew E.;
Widschwendter, Martin;
Hardy, Rebecca;
Kuh, Diana;
Relton, Caroline L.;
Howe, Laura D.

Publication type:

Article

Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 7, p. 1196, doi. 10.1093/hmg/ddy034

By:

Lorès, Patrick;
Coutton, Charles;
El Khouri, Elma;
Stouvenel, Laurence;
Givelet, Maëlle;
Thomas, Lucie;
Rode, Baptiste;
Schmitt, Alain;
Louis, Bruno;
Sakheli, Zeinab;
Chaudhry, Marhaba;
Fernandez-Gonzales, Angeles;
Mitsialis, Alex;
Dacheux, Denis;
Wolf, Jean-Philippe;
Papon, ean-François;
Gacon, Gérard;
Escudier, Estelle;
Arnoult, Christophe;
Bonhivers, Mélanie

Publication type:

Article

Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 7, p. 1174, doi. 10.1093/hmg/ddy032

By:

Atsushi Sudo;
Motoi Kanagawa;
Mai Kondo;
Chiyomi Ito;
Kazuhiro Kobayashi;
Mitsuharu Endo;
Yasuhiro Minami;
Atsu Aiba;
Tatsushi Toda

Publication type:

Article

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 7, p. 1164, doi. 10.1093/hmg/ddy030

By:

Lenglet, Hugo;
Schmitt, Caroline;
Grange, Thomas;
Manceau, Hana;
Karboul, Narjesse;
Bouchet-Crivat, Florian;
Robreau, Anne-Marie;
Nicolas, Gael;
Lamoril, Jerôme;
Simonin, Sylvie;
Mirmiran, Arienne;
Karim, Zoubida;
Casalino, Enrique;
Deybach, Jean-Charles;
Puy, Hervé;
Peoc'h, Katell;
Gouya, Laurent

Publication type:

Article

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 7, p. 1150, doi. 10.1093/hmg/ddy028

By:

Tingwei Guo;
Diacou, Alexander;
Hiroko Nomaru;
McDonald-McGinn, Donna M.;
Hestand, Matthew;
Demaerel, Wolfram;
Liangtian Zhang;
Yingjie Zhao;
Ujueta, Francisco;
Jidong Shan;
Montagna, Cristina;
Deyou Zheng;
Crowley, Terrence B.;
Kushan-Wells, Leila;
Bearden, Carrie E.;
Kates, Wendy R.;
Gothelf, Doron;
Schneider, Maude;
Eliez, Stephan;
Breckpot, Jeroen

Publication type:

Article

The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.

Published in:: Human Molecular Genetics, 2018, v. 27, n. 7, p. 1309, doi. 10.1093/hmg/ddy024
Publication type:: Article