Results 201 to 210 of about 292,600 (397)

Phylogenetic relationships and the identification of allopolyploidy in circumpolar Silene sect. Physolychnis

American Journal of Botany, EarlyView.
Abstract Premise Species complexes are groups of closely related species with ambiguous delimitation, often composed of recently diverged lineages. Polyploidization and uniparental reproduction (i.e., selfing and apomixis) can play important roles in the origin of species complexes. These complexes pose challenges for species‐based scientific questions,
Anne‐Sophie Quatela, Patrik Cangren, Paola de Lima Ferreira, Yannick Woudstra, Andreas Zsoldos‐Skahjem, Christine D. Bacon, Hugo J. de Boer, Bengt Oxelman   +7 more
wiley   +1 more source

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

Hepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source

Identification of a phenotype-specific enhancer in the first intron of the rat collagen II gene. [PDF]

, 1987
Walter E. Horton, Tomoyuki Miyashita, Kimitoshi Kohno, John R. Hassell, Yasuhiro Yamada   +4 more
openalex   +1 more source

Functional Characterization of a Genetic Variant in the 5′ UTR of APC 1B Promoter in a Familial Adenomatous Polyposis Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic germline variants in the APC gene result in familial adenomatous polyposis (FAP) which can escalate into colon cancer. Standard clinical testing failed to identify pathogenic variants in a 4‐generation FAP family. We identified and assessed co‐segregation of a 5′ untranslated region (UTR) variant, NM_001127511.3 (APC) c.‐40G>A ...
Brendon Young, Deborah W. Neklason, Kathleen Clark, Bing‐Jian Feng, Megan B. Keener, Thérèse M. Tuohy, Austin Wood, Wendy C. McKinnon, Marc S. Greenblatt, Sean V. Tavtigian   +9 more
wiley   +1 more source

Double gene mutations of LRSAM1 and REEP1 and a new REEP1 mutation site found in a patient with amyotrophic lateral sclerosis with subjective paresthesia: A case report

Ibrain, EarlyView., 2023
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by selective degeneration of upper and lower motor neurons. Leucine‐rich repeats and sterility α mutations in motif 1 (LRSAM1) has been proven to be involved in the pathogenesis of ALS.
Ji‐Yao Qin, Zun‐Lin Zhou, Yuan‐Qing Zhou, Ya Chen, Xiao‐Yan Yang, Hai‐Qing Zhang, Zu‐Cai Xu   +6 more
wiley   +1 more source

Transcriptome Analyses of Tumor-Adjacent Somatic Tissues Reveal Genes Co-Expressed with Transposable Elements [PDF]

, 2019
Background: Despite the long-held assumption that transposons are normally only expressed in the germ-line, recent evidence shows that transcripts of transposable element (TE) sequences are frequently found in the somatic cells.
Alberto, Adrian, Chung, Micky, Churchill, Daphnie, Clymer, Cody, Han, Mira V., Jonaid, G. M., Navarro Leija, Omar, Quinton, Sophia, Ross, Austin, Sexton, Corinne E.   +9 more
core   +1 more source

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown, Matthew Bower, Matthew Schomaker, Jessica Goldstein, Jeanine Jarnes, Chester B. Whitley, Nishitha R. Pillai   +6 more
wiley   +1 more source

Evidence that introns arose at proto-splice sites. [PDF]

, 1989
N. J. Dibb, Andrew J. Newman
openalex   +1 more source

On the Estimation of Intron Evolution

PLoS Computational Biology, 2006
PLoS Computational Biology recently published an article about spliceosomal intron evolution by Nguyen, Yoshihama, and Kenmochi [1]. The authors were unaware of some earlier independent results. Foremostly, the main point of the article—that of estimating the density of potential intron sites—is not novel.
openaire   +4 more sources

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