Works in Human Molecular Genetics, 2023, Vol 32, Issue 7

Results: 16

Correction to: Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.

Published in:: Human Molecular Genetics, 2023, v. 32, n. 7, p. 1236, doi. 10.1093/hmg/ddac294
Publication type:: Article

PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 7, p. 1223, doi. 10.1093/hmg/ddac288

By:

van de Beek, Irma;
Glykofridis, Iris E;
Oosterwijk, Jan C;
Akker, Peter C van den;
Diercks, Gilles F H;
Bolling, Maria C;
Waisfisz, Quinten;
Mensenkamp, Arjen R;
Balk, Jesper A;
Zwart, Rob;
Postma, Alex V;
Meijers-Heijboer, Hanne E J;
Moorselaar, R Jeroen A van;
Wolthuis, Rob M F;
Houweling, Arjan C

Publication type:

Article

Postnatal neuronal Bace1 deletion impairs neuroblast and oligodendrocyte maturation.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 7, p. 1193, doi. 10.1093/hmg/ddac282

By:

Benoit, Marc R;
Darboe, Mabintou;
Das, Brati;
Ge, Yingying;
Zhou, John;
Yao, Annie;
He, Wanxia;
Yan, Riqiang;
Hu, Xiangyou

Publication type:

Article

A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 7, p. 1162, doi. 10.1093/hmg/ddac279

By:

Ishida, Morié;
Otero, María G;
Freeman, Christina;
Sánchez-Lara, Pedro A;
Guardia, Carlos M;
Pierson, Tyler Mark;
Bonifacino, Juan S

Publication type:

Article

Genome-wide identification of copy neutral loss of heterozygosity reveals its possible association with spatial positioning of chromosomes.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 7, p. 1175, doi. 10.1093/hmg/ddac278

By:

Kim, Hyeonjeong;
Suyama, Mikita

Publication type:

Article

Commentary: towards precision medicine for uterine leiomyomas based on molecular subgroups.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 7, p. 1061, doi. 10.1093/hmg/ddac277

By:

Ordulu, Zehra

Publication type:

Article

A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 7, p. 1152, doi. 10.1093/hmg/ddac276

By:

Dubey, Abhishek Anil;
Krygier, Magdalena;
Szulc, Natalia A;
Rutkowska, Karolina;
Kosińska, Joanna;
Pollak, Agnieszka;
Rydzanicz, Małgorzata;
Kmieć, Tomasz;
Mazurkiewicz-Bełdzińska, Maria;
Pokrzywa, Wojciech;
Płoski, Rafał

Publication type:

Article

Transcription factor FoxM1 promotes cyst growth in PKD1 mutant ADPKD.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 7, p. 1114, doi. 10.1093/hmg/ddac273

By:

Yu, Wenyan;
Wang, Guojuan;
Li, Linda Xiaoyan;
Zhang, Hongbing;
Gui, Xuehong;
Zhou, Julie Xia;
Calvet, James P;
Li, Xiaogang

Publication type:

Article

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 7, p. 1127, doi. 10.1093/hmg/ddac272

By:

Dofash, Lein N H;
Monahan, Gavin V;
Servián-Morilla, Emilia;
Rivas, Eloy;
Faiz, Fathimath;
Sullivan, Patricia;
Oates, Emily;
Clayton, Joshua;
Taylor, Rhonda L;
Davis, Mark R;
Beilharz, Traude;
Laing, Nigel G;
Cabrera-Serrano, Macarena;
Ravenscroft, Gianina

Publication type:

Article

Macrophage-mediated immune response aggravates hearing disfunction caused by the disorder of mitochondrial dynamics in cochlear hair cells.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 7, p. 1137, doi. 10.1093/hmg/ddac270

By:

Zhang, Yuan;
Fu, Xiaolong;
Li, Yiyuan;
Li, Wen;
Hong, Guodong;
Guo, Siwei;
Xiao, Yu;
Liu, Ziyi;
Ding, Shuqin;
Bi, Xiuli;
Ye, Fanglei;
Jin, Jin;
Chai, Renjie

Publication type:

Article

TFIIH mutations can impact on translational fidelity of the ribosome.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 7, p. 1102, doi. 10.1093/hmg/ddac268

By:

Khalid, Fatima;
Phan, Tamara;
Qiang, Mingyue;
Maity, Pallab;
Lasser, Theresa;
Wiese, Sebastian;
Penzo, Marianna;
Alupei, Marius;
Orioli, Donata;
Scharffetter-Kochanek, Karin;
Iben, Sebastian

Publication type:

Article

A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 7, p. 1083, doi. 10.1093/hmg/ddac267

By:

Chepurwar, Shashank;
Loh, Sarah M von;
Wigger, Daniela C;
Neef, Jakob;
Frommolt, Peter;
Beutner, Dirk;
Lang-Roth, Ruth;
Kubisch, Christian;
Strenzke, Nicola;
Volk, Alexander E

Publication type:

Article

Genistein improves renal disease in a mouse model of nephropathic cystinosis: a comparison study with cysteamine.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 7, p. 1090, doi. 10.1093/hmg/ddac266

By:

Leo, Ester De;
Taranta, Anna;
Raso, Roberto;
Polishchuk, Elena;
D'Oria, Valentina;
Pezzullo, Marco;
Goffredo, Bianca Maria;
Cairoli, Sara;
Bellomo, Francesco;
Battafarano, Giulia;
Camassei, Francesca Diomedi;
Fattore, Andrea Del;
Polishchuk, Roman;
Emma, Francesco;
Rega, Laura Rita

Publication type:

Article

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 7, p. 1072, doi. 10.1093/hmg/ddac261

By:

Copier, Jaël S;
Bootsma, Marianne;
Ng, Chai A;
Wilde, Arthur A M;
Bertels, Robin A;
Bikker, Hennie;
Christiaans, Imke;
Crabben, Saskia N van der;
Hol, Janna A;
Koopmann, Tamara T;
Knijnenburg, Jeroen;
Lommerse, Aafke A J;
Smagt, Jasper J van der;
Bezzina, Connie R;
Vandenberg, Jamie I;
Verkerk, Arie O;
Barge-Schaapveld, Daniela Q C M;
Lodder, Elisabeth M

Publication type:

Article

Syntaxin 4 is essential for hearing in human and zebrafish.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 7, p. 1184, doi. 10.1093/hmg/ddac257

By:

Schrauwen, Isabelle;
Ghaffar, Amama;
Bharadwaj, Thashi;
Shah, Khadim;
Rehman, Sakina;
Acharya, Anushree;
Liaqat, Khurram;
Lin, Nicole S;
Everard, Jenna L;
Khan, Anwar;
Ahmed, Zubair M;
Ahmad, Wasim;
Riazuddin, Saima;
Leal, Suzanne M

Publication type:

Article

Molecular subclass of uterine fibroids predicts tumor shrinkage in response to ulipristal acetate.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 7, p. 1063, doi. 10.1093/hmg/ddac217

By:

Kolterud, Åsa;
Välimäki, Niko;
Kuisma, Heli;
Patomo, Joonatan;
Ilves, Sini T;
Mäkinen, Netta;
Kaukomaa, Jaana;
Palin, Kimmo;
Kaasinen, Eevi;
Karhu, Auli;
Pasanen, Annukka;
Bützow, Ralf;
Heikinheimo, Oskari;
Kallner, Helena Kopp;
Aaltonen, Lauri A

Publication type:

Article