Results 71 to 80 of about 36,631 (311)

Intersexes Dependent on a Maternal Effect in Hybrids Between Drosophila Repleta and D. Neorepleta [PDF]

, 1946
Drosophila repleta Wollaston and D. neorepketa Patterson and Wheeler are closely similar species, the former widely distributed and the latter known from Guatemala. It was found by Dr. E.
Sturtevant, A. H.
core   +1 more source

Cis‐ and Trans‐Regulatory Factors Independently Shape Phenotypic Heterogeneity of Retinitis Pigmentosa

Advanced Science, EarlyView.
A zebrafish model carrying an identical human RHO S334X allele reveals two independent genetic layers shaping retinitis pigmentosa (RP) severity: a protective 3‐bp cis‐regulatory insertion that attenuates transgene expression, and a dominant trans‐acting modifier that restores a severe phenotype.
Cong Cui, Kotone Nakagawa, Takumi Tateno, Ayaka Dan, Dexin Meng, Yoshihiro Omori, Soma Tomihara, Suzuri Okamoto, Shigeru Sato, Motokazu Tsujikawa   +9 more
wiley   +1 more source

Chromosomal Abnormalities in Iranian Infertile Males who are Candidates for Assisted Reproductive Techniques [PDF]

International Journal of Fertility and Sterility, 2007
Background: The present study offers our contribution on the topic by a retrospective analysis of the prevalence of chromosomal abnormalities in a population of Iranian infertile men attending assisted reproduction programs.Materials and Methods ...
iman salahshourifar, Mohammad Ali Sadighi Gilani, Najmeh sadat Masoudi, Hamid Gourabi   +3 more
doaj   +1 more source

Characteristics and survival of patients with advanced cancer and p53 mutations. [PDF]

, 2014
P53 mutations are associated with invasive tumors in mouse models. We assessed the p53mutations and survival in patients with advanced cancer treated in the Phase I Program. Of 691 tested patients, 273 (39.5%) had p53 mutations.
Aldape, Kenneth, Fu, Siqing, Hess, Kenneth R, Hong, David S, Janku, Filip, Kurzrock, Razelle, Naing, Aung, Palmer, Gary A, Said, Rabih, Thomas, Christoforos, Tsimberidou, Apostolia M, Wheler, Jennifer J, Ye, Yang   +12 more
core   +4 more sources

FASLG Derived from Fibroblasts in Hydroxyapatite‐Rich Microenvironment Induces Urothelial Anoikis to Trigger Randall's Plaque Exposure

Advanced Science, EarlyView.
Randall's plaques (RP) serve as the nidus for calcium oxalate (CaOx) kidney stones. The current study reveals that hydroxyapatite (HAP) crystals activate the THY1–GSK3α/β–β‐catenin axis in renal interstitial fibroblasts (hRIFs), inducing FASLG secretion.
Minghui Liu, Maolan Wu, Meng Gao, Yongchao Li, Miao Yuan, Zhangcheng Liao, Zhi Liu, Yizhou Wang, Yu Cui, Jinbo Chen, Cheng He, Zhiyong Chen, Feng Zeng, Hequn Chen, Zewu Zhu   +14 more
wiley   +1 more source

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development [PDF]

, 2011
Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling ...
AJ Notini, AJ Paige, AK Bednarek, Andrew Sinclair, D Wilhelm, DM Maatouk, E Sutton, Erin Turbitt, H Stoop, Jacqueline Hewitt, JH Ludes-Meyers, Leendert Looijenga, LH Looijenga, M Cools, M Cools, Martine Cools, MI Nunez, N Bouteille, PA Lee, Peter Koopman, R Hersmus, Remko Hersmus, RI Aqeilan, RI Aqeilan, RI Aqeilan, RI Aqeilan, S Del Mare, SJ White, SJ White, Stefan White, Stenvert Drop, Vincent Harley, Yvonne van der Zwan   +32 more
core   +1 more source

Haplotype‐Resolved 3D Genomic Landscapes and Their Impacts on Agronomic Traits in Grapevine

Advanced Science, EarlyView.
This study presents a haplotype‐resolved 3D genomic landscape of grapevine, revealing that structural variations (SVs) are closely associated with phased topologically associating domain (TAD) boundary transitions. These rearrangements coordinate with allele‐specific DNA methylation (ASM) and allele‐biased gene expression (ASE) to shape key agronomic ...
Yanling Peng, Lianzhu Zhou, Xinyue Fang, Ruoyan Zhao, Qi Xu, Mengrui Du, Ting Hou, Guizhou Huang, Yingchun Zhang, Sheng Yan, Ruo Yang, Zhongxin Jin, Yang Dong, Yanshuai Xu, Hua Xiao, Xiaodong Xu, Yi Liao, Xiping Wang, Yongfeng Zhou   +18 more
wiley   +1 more source

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

BMC Medical Genetics, 2012
Background The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD)).
Hersmus Remko, Stoop Hans, Turbitt Erin, Oosterhuis J, Drop Stenvert LS, Sinclair Andrew H, White Stefan J, Looijenga Leendert HJ   +7 more
doaj   +1 more source

Minor Loops in Major Folds: Enhancer-Promoter Looping, Chromatin Restructuring, and Their Association with Transcriptional Regulation and Disease. [PDF]

, 2015
The organization and folding of chromatin within the nucleus can determine the outcome of gene expression. Recent technological advancements have enabled us to study chromatin interactions in a genome-wide manner at high resolution.
Ahituv, Nadav, Matharu, Navneet
core   +1 more source

Multi‐Omics Profiling Reveals Immunomodulatory and Pro‐Regenerative Effects of a Graphene Oxide–Collagen Scaffold in Massive Rotator Cuff Tears

Advanced Science, EarlyView.
A graphene oxide/collagen scaffold is developed for chronic massive rotator cuff tear repair. The scaffold improves compressive stability, supports reparative mesenchymal differentiation, and modulates the immune microenvironment. In chronic MRCT models, it reduces muscle degeneration, enhances tendon–bone regeneration, and improves functional recovery,
Renwen Wan, Yechuan Deng, Zixin Hu, Yanwei He, Xinting Feng, Jun Ma, Yisheng Chen, Zhijie Zhao, Jie Mei, Zhiheng Lin, Wei Luo, Zhengyuan Fang, Zhufeng Hu, Kunlun Feng, Xinrong Li, Dan Wu, Bowen Han, James Hoi po Hui, Xuanyong Liu, Chen Chen, Gang Chen, Shiyi Chen, Nirong Bao, Jiajun Qiu, Zhiwen Luo   +24 more
wiley   +1 more source