Results 51 to 60 of about 23,557 (205)

PRESENCE OF THE SRY GENE IN DISORDERS OF SEXUAL DIFFERENTIATION [PDF]

Pediatric Research, 1993
Identification of Y chromosomal material is important in individuals wilh disorders of sexual differentiation because 1) an increased risk for gonadal neoplasms exists and 2) insight into the process of sexual differentiation may be augmented. To better understand the role of SRY in disorders of sexual differentiation, tissues from 4 individuals were ...
M Kocova, S F Siegel, W A Rudert, M Trucco   +3 more
openaire   +1 more source

Kaempferol Attenuates Spaceflight‐Associated Knee Cartilage Degradation by Targeting NOX4‐Mediated Mitochondrial Dysfunction

Advanced Science, EarlyView.
We have shown that both simulated and actual spaceflight contribute to cartilage degradation in the knees of mice. Using RNA sequencing and bioenergetic profiling, we identified NADPH oxidase 4 (NOX4) as a key factor driving these changes. Additionally, we found that kaempferol, a naturally occurring flavonoid that binds directly to NOX4, reduces ...
Yuesong Yin, Ruiling Xu, Meagan J. Makarczyk, Jia‐Jun Liu, Silvia Liu, Matthew Z. Shi, Roberta Di Carlo, Michael F. Almeida, Alex Garris, Sarah Day, Rebekah Sanchez‐Hodge, Jonathan C. Schisler, Aleeza H. Zilberman, Noah G. Allen, Angela J. Kubik, Elizabeth A. Blaber, Arnold Z. Olali, Wanqing Xie, Douglas C. Wallace, Christopher E. Mason, Peter G. Alexander, Giuseppe Intini, Afshin Beheshti, Hang Lin   +23 more
wiley   +1 more source

Dual‐line Genome‐scale CRISPR Screening Enables Robust Target Gene Discovery

Advanced Science, EarlyView.
A species‐optimized CRISPR platform integrates efficient piggyBac delivery, genome‐scale sgRNA libraries, and parallel screening in two independently engineered Bactrocera dorsalis Cas9 cell lines. Cross‐line consensus analysis filters line‐specific effects, enriches candidates with reproducible in vivo phenotypes, and reveals conserved, species ...
Ziniu Li, Jiao Qiao, Qiuyuan Zhang, Peipei Liu, Chenjun Zheng, Qi Zhou, Mengqi Ji, Zhihui Zhu, Xiaoxue Li, Hongyu Zhang   +9 more
wiley   +1 more source

The ambiguity of freemartinism diagnosis in cattle revealed by cytogenetic and molecular techniques

Czech Journal of Animal Science, 2004
Nineteen heifers and three male co-twins, originating from heterosexual twin pregnancies, were analysed with the use of cytogenetic and molecular techniques.
J. Nowacka, M. Switonski, M. Mackowski, E. Slota, A. Radko, T. Zabek, K. Urbaniak   +6 more
doaj   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

A case report of an XX male with complete masculinization but absence of the SRY gene

Middle East Fertility Society Journal, 2010
A 34-year old man with complete masculinization and a history of several years of infertility was referred to us for genetic reviewing. His semen analysis showed azoospermia.
Ghalia Abou Alchamat, Marwan Alhlabi, Muhyiddin Issa   +2 more
doaj   +1 more source

Organizational and functional status of the Y-linked genes and loci in the infertile patients having normal spermiogram. [PDF]

PLoS ONE, 2012
Male fertility is an orchestrated interplay of loci on the Y chromosome with a number of genes from across the other chromosomes. In this context, micro-deletions in the Y chromosome have been correlated with spermatogenic failure often leading to ...
Anju Kumari, Sandeep Kumar Yadav, Sher Ali   +2 more
doaj   +1 more source

SOX6 is expressed in various cell lineages in the developing mouse heart and contributes to proper valvuloseptal development

The Anatomical Record, EarlyView.
Abstract Cells derived from the endocardium, epicardium, cardiac neural crest, and second heart field play a critical role in the formation of the valvuloseptal structures of the heart. Previous studies have shown that the expression of the transcription factor SOX9 in these cell populations is essential in the regulation of this process.
Hannah G. Tarolli, Andrew B. Harvey, Inara Devji, Raymond N. Deepe, Jenna R. Drummond, Renélyn A. Wolters, Andy Wessels   +6 more
wiley   +1 more source

Reproducibility of Serum Androgen Concentrations by Liquid Chromatography Mass Spectrometry in Healthy Male and Female Athletes

Drug Testing and Analysis, EarlyView.
Box and whiskers plots show the distributions of serum testosterone (T), dihydrotestosterone (DHT), androstenedione (A4), and the ratios of T/FDHT and T/A4. ABSTRACT Detection of androgen doping relies on mass spectrometry‐based methods to detect natural endogenous and exogenous androgens in urine and serum. To distinguish exogenous administration from
D. J. Handelsman, S. Bermon
wiley   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source