Works matching IS 09646906 AND DT 2024 AND VI 33 AND IP 21

Results: 9

Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 21, p. 1833, doi. 10.1093/hmg/ddae119

By:

Kalani, Ladan;
Kim, Bo-Hyun;
Chavez, Alberto Ruiz de;
Roemer, Anastasia;
Mikhailov, Anna;
Merritt, Jonathan K;
Good, Katrina V;
Chow, Robert L;
Delaney, Kerry R;
Hendzel, Michael J;
Zhou, Zhaolan;
Neul, Jeffrey L;
Vincent, John B;
Ausió, Juan

Publication type:

Article

A new mouse model for PRPH2 pattern dystrophy exhibits functional compensation prior and subsequent to retinal degeneration.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 21, p. 1916, doi. 10.1093/hmg/ddae128

By:

Cavanaugh, Breyanna L;
Milstein, Michelle L;
Boucher, R Casey;
Tan, Sharon X;
Hanna, Mario W;
Seidel, Adam;
Frederiksen, Rikard;
Saunders, Thomas L;
Sampath, Alapakkam P;
Mitton, Kenneth P;
Zhang, Dao-Qi;
Goldberg, Andrew F X

Publication type:

Article

An integrated picture of chronic pancreatitis derived by mapping variants in multiple disease genes onto pathogenic pathways.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 21, p. 1887, doi. 10.1093/hmg/ddae127

By:

Prasad, Hari;
Shah, Idrees A;
Kurien, Reuben Thomas;
Chowdhury, Sudipta Dhar;
Visweswariah, Sandhya S

Publication type:

Article

Expression levels of core spliceosomal proteins modulate the MBNL-mediated spliceopathy in DM1.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 21, p. 1873, doi. 10.1093/hmg/ddae125

By:

Louis, Jiss M;
Frias, Jesus A;
Schroader, Jacob H;
Jones, Lindsey A;
Davey, Emily E;
Lennon, Claudia D;
Chacko, Jacob;
Cleary, John D;
Berglund, J Andrew;
Reddy, Kaalak

Publication type:

Article

Lynch syndrome-associated and sporadic microsatellite unstable colorectal cancers: different patterns of clonal evolution yield highly similar tumours.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 21, p. 1858, doi. 10.1093/hmg/ddae124

By:

Martin, Samantha;
Katainen, Riku;
Taira, Aurora;
Välimäki, Niko;
Ristimäki, Ari;
Seppälä, Toni;
Renkonen-Sinisalo, Laura;
Lepistö, Anna;
Tahkola, Kyösti;
Mattila, Anne;
Koskensalo, Selja;
Mecklin, Jukka-Pekka;
Rajamäki, Kristiina;
Palin, Kimmo;
Aaltonen, Lauri A

Publication type:

Article

Exploring the human genomic landscape: patterns of common homozygosity regions in a large middle eastern cohort.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 21, p. 1908, doi. 10.1093/hmg/ddae123

By:

Sagi-Dain, Lena;
Levy, Michal;
Matar, Reut;
Kahana, Sarit;
Agmon-Fishman, Ifaat;
Klein, Cochava;
Gurevitch, Merav;
Basel-Salmon, Lina;
Maya, Idit

Publication type:

Article

TRIM25 activates Wnt/β-catenin signalling by destabilising MAT2A mRNA to drive thoracic aortic aneurysm development.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 21, p. 1890, doi. 10.1093/hmg/ddae122

By:

Li, Chaojie;
Wang, Kan;
Fang, Jian;
Qin, Lin;
Ling, Qiong;
Yu, Yu

Publication type:

Article

NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 21, p. 1900, doi. 10.1093/hmg/ddae121

By:

Santangelo, Serena;
Invernizzi, Sabrina;
Sorce, Marta Nice;
Casiraghi, Valeria;
Peverelli, Silvia;
Brusati, Alberto;
Colombrita, Claudia;
Ticozzi, Nicola;
Silani, Vincenzo;
Bossolasco, Patrizia;
Ratti, Antonia

Publication type:

Article

Talin-1 variants associated with spontaneous coronary artery dissection (SCAD) highlight how even subtle changes in multi-functional scaffold proteins can manifest in disease.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 21, p. 1846, doi. 10.1093/hmg/ddae120

By:

Azizi, Latifeh;
Otani, Yasumi;
Mykuliak, Vasyl V;
Goult, Benjamin T;
Hytönen, Vesa P;
Turkki, Paula

Publication type:

Article