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

Results: 9

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
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