Results 61 to 70 of about 1,694,828 (235)

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

Sry, Sox9 and mammalian sex determination

, 2001
Sry is the Y-chromosomal gene that acts as a trigger for male development in mammalian embryos. This gene encodes a high mobility group (HMG) box transcription factor that is known to bind to specific target sequences in DNA and to cause a bend in the ...
Koopman, P. A., Peter Koopman, Koopman, P.   +2 more
core   +1 more source

Impact of Highly Effective Modulator Therapy on Olfactory‐Specific Gene Expression in People With Cystic Fibrosis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis is common in people with cystic fibrosis (PwCF). Highly effective modulator therapy (HEMT) has been shown to improve sinonasal outcomes. However, prior studies failed to show improvement in objective olfaction with HEMT, and the impact of HEMT on olfactory‐specific quality of life has yet to be studied ...
Michael R. Xiang, Ankit Chauhan, Gina Hong, Denis Hadjiliadis, Daniel Dorgan, Michael M. Rey, Samantha Kane, James N. Palmer, Nithin D. Adappa, Noam A. Cohen, Michael A. Kohanski, Jennifer E. Douglas   +11 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

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

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

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

Regulation of CATSPER1 expression by the testis-determining gene SRY

PLOS ONE, 2018
El gen CATSPER1 codifica una subunidad formadora de poros y sensible al pH del canal permeable CatSper Ca2+, una proteína en el flagelo esencial para la hiperactivación de los espermatozoides. Estudios previos han demostrado que el promotor del gen Catsper1 murino está regulado por diferentes proteínas Sox.
Aleida Olivares, Adriana Hernández-Reyes, Ricardo Felix, Ángela Forero, Minerva Mata‐Rocha, Javier Hernández‐Sánchez, Ivanaldo Santos, Charmina Aguirre-Alvarado, Norma Oviedo   +8 more
openaire   +4 more sources

Membrane lipid metabolism as a regulatory frontier in neural crest biology: Roles for sphingolipids, cholesterol, and lipid rafts

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are multipotent, migratory stem‐like cells essential for vertebrate development that contribute broadly to many tissues including the craniofacial skeleton, peripheral nervous system, and pigment‐producing cells. Their development progresses through phases of induction, specification, delamination, migration, and ...
Allison E. Mancini, Mallorie P. Jenne, Michael L. Piacentino   +2 more
wiley   +1 more source