Results 261 to 270 of about 325,490 (342)

Group II intron self-splicing. Alternative reaction conditions yield novel products.

, 1988
Kevin A. Jarrell, Craig L. Peebles, Rosemary C. Dietrich, Steven L. Romiti, Philip S. Perlman   +4 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

Revealing the role of U2AF1 in splicing regulation and chimeric RNA dynamics. [PDF]

Sci Rep
Khan S, Tang Y, Guo Y, Feng J, Wu H, Song Z, Zhang C, Qin F.   +7 more
europepmc   +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 categorizes organ development by stage and reveals unique human splicing variants linked to neuromuscular disorders. [PDF]

J Biol Chem
Li C, Gong FX, Yang Z, Fu X, Shi H, Sun X, Zhang X, Xiao R.   +7 more
europepmc   +1 more source

Alternative splicing generates variants in important functional domains of human slow skeletal troponin T.

, 1987
Reinhold Gahlmann, Anthony B. Troutt, Robert Wade, Peter W. Gunning, Larry Kedes   +4 more
openalex   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Analysis of the 5' end of the Drosophila muscle myosin heavy chain gene. Alternatively spliced transcripts initiate at a single site and intron locations are conserved compared to myosin genes of other organisms.

, 1987
D R Wassenberg, William A. Kronert, P T O'Donnell, Sanford I. Bernstein   +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

Alternative splicing of the Snap23 microexon is regulated by MBNL, QKI, and RBFOX2 in a tissue-specific manner and is altered in striated muscle diseases. [PDF]

RNA Biol
Gentile GM, Blue RE, Goda GA, Guzman BB, Szymanski RA, Lee EY, Engels NM, Hinkle ER, Wiedner HJ, Bishop AN, Harrison JT, Zhang H, Wehrens XHT, Dominguez D, Giudice J.   +14 more
europepmc   +1 more source