Results 141 to 150 of about 263,691 (312)

Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish population Communicated by: R.G.H. Cotton Online Citation: Human Mutation, Mutation in Brief #329 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/329.pdf [PDF]

, 2000
Dorota Butkiewicz, Marek Rusin, Curtis C. Harris, M Choraźy   +3 more
openalex   +1 more source

When numbers matter: Rethinking the role of gene duplication on short evolutionary timescales

American Journal of Botany, EarlyView.
Freja Lindstedt, Qiujie Zhou, Pascal Milesi   +2 more
wiley   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

SBE-TAGS: An array-based method for efficient single-nucleotide polymorphism genotyping

, 2000
Joel N. Hirschhorn, Pamela Sklar, Kerstin Lindblad‐Toh, Yin-Mei Lim, Melisa Ruiz‐Gutierrez, Stacey Bolk, Bradley W. Langhorst, S. F. Schaffner, Ellen Winchester, Eric S. Lander   +9 more
openalex   +1 more source

SOX6 enhances vascular smooth muscle cell phenotypic switching and elevates blood pressure by activating autophagy

Animal Models and Experimental Medicine, EarlyView.
Sox6 expression is elevated in hypertensive conditions and promotes vascular smooth muscle cell phenotypic switching through autophagy activation. Using gain‐ and loss‐of‐function approaches both in vitro and in vivo, we demonstrate that Sox6 regulates blood pressure and vascular remodeling, highlighting its potential as a novel therapeutic target for ...
Qianhui Ling, Xilan Dong, Liyan Mao, Chengjun Huang, Linjing Cong, Haizeng Zhang, Jun Cai, Zhenzhen Chen   +7 more
wiley   +1 more source

Multiple low dose streptozotocin‐induced diabetes as a model for studying autoimmune diabetes in humans

Animal Models and Experimental Medicine, EarlyView.
Multiple low dose streptozotocin‐induced diabetes is a valuable animal model of diabetes type 1. It should be improved by further research on autoantigens, microbiota and mucosal immune cells from the gut, but also from other organs. Abstract The autoimmune response directed against pancreatic β cells is the most essential pathogenic process in type 1 ...
Ivan Koprivica, Suzana Stanisavljević, Dragica Mićanović, Ivana Stojanović, Đorđe Miljković   +4 more
wiley   +1 more source

Single nucleotide polymorphism and expression of P16 gene as a potential biomarker for oral and pre-oral cancer. [PDF]

Discov Oncol
Nigam K, Verma Y, Kulshrestha MR, Singh A, Sanyal S.   +4 more
europepmc   +1 more source

A CELLULAR AUTOMATA APPROACH TO DETECTING INTERACTIONS AMONG SINGLE-NUCLEOTIDE POLYMORPHISMS IN COMPLEX MULTIFACTORIAL DISEASES [PDF]

, 2001
Jason H. Moore, Lance W. Hahn
openalex   +1 more source

Using single nucleotide polymorphisms as a means to understanding the pathophysiology of asthma [PDF]

, 2001
Lyle J. Palmer, William Cookson
openalex   +1 more source

Analysis of runs of homozygosity in Yeonsan Ogye chickens using 600K single nucleotide polymorphism arrays. [PDF]

J Anim Sci Technol
Kim J, Kim M, Cho E, Lee SS, Kim S, Jin D, Lee JH.   +6 more
europepmc   +1 more source