Results 261 to 270 of about 411,790 (378)

Deciphering alternative splicing patterns during cell fate transition of fast chemical reprogramming. [PDF]

BMC Biol
Lu Y, Lin K, Ruan Y, Li J, Zhang H, Pan T, Wang Q, Lin L, Feng S.   +8 more
europepmc   +1 more source

Multiple isoforms of the mouse retinoic acid receptor alpha are generated by alternative splicing and differential induction by retinoic acid. [PDF]

, 1991
Pierre Leroy, A. Krust, Arthur Zelent, Cathy Mendelsohn, Jean‐Marie Garnier, Philippe Kastner, A. Dierich, Pierre Chambon   +7 more
openalex   +1 more source

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Alternative splicing of transposable elements in human breast cancer. [PDF]

Mob DNA
Nesta A, Veiga DFT, Banchereau J, Anczukow O, Beck CR.   +4 more
europepmc   +1 more source

Developmentally regulated alternative splicing generates a complex array of Drosophila para sodium channel isoforms [PDF]

, 1994
J. R. Thackeray, Barry Ganetzky
openalex   +1 more source

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tyhiesia Donald, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Shannon C. Shipley, Andrew E. Timms, Ghayda M. Mirzaa, Mercedes Serrano, Andrew K. Sobering   +12 more
wiley   +1 more source

Alternative splicing factors and cardiac disease: more than just missplicing? [PDF]

RNA
Gregorich ZR, Guo W.
europepmc   +1 more source

Human ceruloplasmin. Tissue-specific expression of transcripts produced by alternative splicing.

, 1990
Feifei Yang, William E. Friedrichs, Rod Cupples, Maria Bonifacio, J A Sanford, William A. Horton, B H Bowman   +6 more
openalex   +1 more source

Independent expression of the transforming amino-terminal domain of SV40 large I antigen from an alternatively spliced third SV40 early mRNA. [PDF]

, 1993
Jens Zerrahn, Uwe Knippschild, Thomas Winkler, Wolfgang Deppert   +3 more
openalex   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source