Results 171 to 180 of about 167,962 (232)

The Role of Alternative Splicing in Polyploids in Response to Abiotic Stress. [PDF]

Int J Mol Sci
Fatima F, Yoo MJ.
europepmc   +1 more source

Selinexor and Venetoclax Combination in Patients With Relapsed or Refractory Acute Myeloid Leukemia

American Journal of Hematology, EarlyView.
ABSTRACT Preclinical studies showed a synergistic antileukemia activity with combination of selective XPO1 inhibitor selinexor (SEL) and venetoclax (VEN), with potential to overcome VEN resistance by reducing the anti‐apoptotic protein MCL1. In an investigator‐sponsored, open‐label, phase Ib study (NCT03955783), adult patients with relapsed or ...
Somedeb Ball, Farrukh T. Awan, Ben K. Tomlinson, Tess Stopczynski, Melissa A. Fischer, Zhiguo Zhao, Kateryna Fedorov, Ashwin Kishtagari, Sanjay R. Mohan, Gregory D. Ayers, Michael T. Byrne, Michael R. Savona   +11 more
wiley   +1 more source

Cell-type-specific alternative splicing in the brain and kidney of a Setbp1S858R Schinzel-Giedion syndrome mouse.

Dis Model Mech
Soelter TM, Jones EF, Howton TC, Crumley AB, Wilk EJ, Lasseigne BN.   +5 more
europepmc   +1 more source

U2AF2 controls alternative splicing in speckle-proximal regions in an RS domain-dependent manner. [PDF]

Nucleic Acids Res
Pankivskyi S, Kobayashi A, Salone JM, Gargoly K, Pastré D, Maucuer A.   +5 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Species-specific alternative splicing of SP110 drives tuberculosis susceptibility in cattle. [PDF]

Vet Res
Fan A, Guo Y, Li Z, Dong X, Zhang Z, Wang X, Song Y, Han J, Yang J, Wang H, Zhang X, Zhang Y, Gao Y.   +12 more
europepmc   +1 more source

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Alternative splicing in cancer drug resistance: Mechanisms and therapeutic prospects (Review). [PDF]

Oncol Rep
Zhu W, Wu Z, Luv C, Bao B, Zhao W, Chen G, Yang H, Ai H, Liu F, Li Z.   +9 more
europepmc   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source