Results 231 to 240 of about 482,093 (336)

The first intron of the 4F2 heavy-chain gene contains a transcriptional enhancer element that binds multiple nuclear proteins.

, 1989
Beverly A. Karpinski, Lihong Yang, Philip Cacheris, Gerald D. Morle, Jeffrey M. Leiden   +4 more
openalex   +1 more source

Intron-less RNA injected into the nucleus of Xenopus oocytes accesses a regulated translation control pathway [PDF]

, 1994
Martin Braddock, Martina U. Muckenthaler, Michael White, Andrew M. Thorbum, John Sommerville, Alan J. Kingsman, Susan M. Kingsman   +6 more
openalex   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Knockdown-resistance (kdr) mutations in Indian Aedes aegypti populations: Lack of recombination among haplotypes bearing V1016G, F1534C, and F1534L kdr alleles. [PDF]

PLoS Negl Trop Dis
Kaur T, Kushwah RS, Pradhan S, Das MK, Kona MP, Anushrita, Mittal R, Weetman D, Dixit R, Singh OP.   +9 more
europepmc   +1 more source

Expression of the "split gene" cob in yeast mtDNA. Nuclear mutations specifically block the excision of different introns from its primary transcript.

, 1983
Timothy M. Pillar, B. Franz Lang, Iris Steinberger, Bernd Vogt, F. Kaudewitz   +4 more
openalex   +1 more source

Intron DNA Sequences Can Be More Important Than the Proximal Promoter in Determining the Site of Transcript Initiation

The Plant Cell, 2017
J. Gallegos, A. Rose
semanticscholar   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Minigenes enhance heterologous expression and prevent aberrant splicing of mouse Spink1. [PDF]

Sci Rep
Berke G, Sahin-Tóth M.
europepmc   +1 more source

Complete RNA editing of unspliced and dicistronic transcripts of the intron-containing reading frame IRF170 from maize chloroplasts. [PDF]

, 1994
Sandra Ruf, Patric Zeltz, Hans Kössel
openalex   +1 more source

A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala, Fabio Sirchia, Claudia Scotti, Elena Rossi, Roberta Falcioni, Silvano Ragozza, Antonella Casella, Enza Maria Valente, Cesare Danesino   +8 more
wiley   +1 more source