Results 261 to 270 of about 384,167 (334)

RNA splicing modulator for Huntington's disease treatment induces peripheral neuropathy. [PDF]

iScience
Krach F, Boerstler T, Neubert S, Krumm L, Regensburger M, Winkler J, Winner B.   +6 more
europepmc   +1 more source

Compensatory Interplay Between Clarin‐1 and Clarin‐2 Deafness‐Associated Proteins Governs Phenotypic Variability in Hearing

Advanced Science, EarlyView.
Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling, Aïda Yakhlef Sanchez, Nicolas Thelen, Müge Senarisoy, Maria Hogg, Steven Condamine, Andrea Lelli, Emilia Wysocka, Pranav Patni, Sandrine Vitry, Kerem Yasin Yildizhan, Sébastien Le Gal, Sylvie Nouaille, Michael R. Bowl, Marc Thiry, Didier Dulon, Sedigheh Delmaghani, Aziz El‐Amraoui   +17 more
wiley   +1 more source

Correction to "Alternative RNA Splicing of the GIT1 Gene Is Associated With Neuroendocrine Prostate Cancer". [PDF]

Cancer Sci
europepmc   +1 more source

A Murine Database of Structural Variants Identifies A Candidate Gene for a Spontaneous Murine Lymphoma Model

Advanced Science, EarlyView.
We analyzed long‐read genomic sequencing data obtained from 40 inbred mouse strains to produce a large database of structural variants. This dataset captures the major types of structural variants, which includes deletions, insertions, duplications, and inversions.
Wenlong Ren, Zhuoqing Fang, Egor Dolzhenko, Christopher T. Saunders, Zhuanfen Cheng, Victoria Popic, Gary Peltz   +6 more
wiley   +1 more source

Exploring the connection between RNA splicing and intellectual disability. [PDF]

Curr Opin Genet Dev
Caputo A, Schaffer AE.
europepmc   +1 more source

Impact of Mutational Landscape and Burden on RBC Transfusion Response in Patients With Lower‐Risk Myelodysplastic Syndromes (LR‐MDS) in the COMMANDS Study

American Journal of Hematology, EarlyView.
ABSTRACT The COMMANDS trial established luspatercept as a first‐line treatment for anemia in transfusion‐dependent lower‐risk (LR) myelodysplastic syndromes (MDS). Here we report red blood cell (RBC) transfusion response analysis based on somatic mutations profile and disease risk for patients treated with luspatercept or epoetin alfa in the COMMANDS ...
Rami S. Komrokji, Sheida Hayati, Manuel Ugidos, Guillermo Garcia‐Manero, Matteo Giovanni Della Porta, Amer M. Zeidan, Valeria Santini, Uwe Platzbecker, Anita K. Gandhi, Rajasekhar N. V. S. Suragani   +9 more
wiley   +1 more source

USP39 at the crossroads of cancer immunity: regulating immune evasion and immunotherapy response through RNA splicing and ubiquitin signaling. [PDF]

Front Immunol
Zhou F, Li X, Sun Y, Wang Y, Niu K, Gao X, Zhang J, Chen T, Li Y, Zhao W, Mao B, Xu Q, Shi Y, He Z.   +13 more
europepmc   +1 more source

Highly Sensitive Methods Based on Seminested Real-Time Reverse Transcription-PCR for Quantitation of Human Immunodeficiency Virus Type 1 Unspliced and Multiply Spliced RNA and Proviral DNA

, 2008
Alexander Pasternak, Karen W. Adema, Margreet Bakker, Suzanne Jurriaans, Ben Berkhout, Marion Cornelissen, Vladimir V. Lukashov   +6 more
openalex   +2 more sources

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

American Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova, Dusan Hrckulak, Veronika Zimolova, Felipe R. Lorenzo, Jihyun Song, Katerina Vecerkova, Olga Babosova, Linda Berkova, Vladimir Korinek, Steve Elliott, Josef T. Prchal   +10 more
wiley   +1 more source

SNP rs10748643 determines CD39 expression in T and NK cells through altering NFIC binding affinity rather than interfering with RNA splicing. [PDF]

Front Immunol
Gan C, Wu Q, Goronzy JJ, Zhang Y, Li L, Sheng H, Fang F.   +6 more
europepmc   +1 more source