Results 121 to 130 of about 256,296 (370)

Sertoli cells control peritubular myoid cell fate and support adult Leydig cell development in the prepubertal testis

Development, 2014
Sertoli cells (SCs) regulate testicular fate in the differentiating gonad and are the main regulators of spermatogenesis in the adult testis; however, their role during the intervening period of testis development, in particular during adult Leydig cell (
D. Rebourcet, P. O’Shaughnessy, Jean-Luc Pitetti, Ana Monteiro, L. O’Hara, Laura Milne, Y. Tsai, Lyndsey Cruickshanks, D. Riethmacher, F. Guillou, R. Mitchell, R. J. van ‘t Hof, T. Freeman, S. Nef, Lee B. Smith   +14 more
semanticscholar   +1 more source

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality

Human Mutation, Volume 43, Issue 12, Page 2205-2221, December 2022., 2022
Mutation frequency heat map of spontaneous PTPN11 variants show spatial clustering in the testis due to germline selection explaining the high birth incidence of Noonan syndrome. Some somatic PTPN11 cancer mutations are similarly clustered in testis. Abstract Some spontaneous germline gain‐of‐function mutations promote spermatogonial stem cell clonal ...
Jordan Eboreime, Soo‐Kyung Choi, Song‐Ro Yoon, Anastasiia Sadybekov, Vsevolod Katritch, Peter Calabrese, Norman Arnheim   +6 more
wiley   +1 more source

Sertoli Cells Maintain Leydig Cell Number and Peritubular Myoid Cell Activity in the Adult Mouse Testis

PLoS ONE, 2014
The Sertoli cells are critical regulators of testis differentiation and development. In the adult, however, their known function is restricted largely to maintenance of spermatogenesis.
D. Rebourcet, P. O’Shaughnessy, Ana Monteiro, Laura Milne, Lyndsey Cruickshanks, N. Jeffrey, F. Guillou, T. Freeman, R. Mitchell, Lee B. Smith   +9 more
semanticscholar   +1 more source

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Lifelong testicular differentiation in Pleurodeles waltl (Amphibia, Caudata)

Reproductive Biology and Endocrinology, 2009
Background In numerous Caudata, the testis is known to differentiate new lobes at adulthood, leading to a multiple testis. The Iberian ribbed newt Pleurodeles waltl has been studied extensively as a model for sex determination and differentiation ...
Chesnel Amand, Chardard Dominique, Dumond Hélène, Flament Stéphane   +3 more
doaj   +1 more source

The Gut Microbiota and Developmental Programming of the Testis in Mice

PLoS ONE, 2014
Nutrients and environmental chemicals, including endocrine disruptors, have been incriminated in the current increase in male reproductive dysfunction, but the underlying mechanisms remain unknown.
M. Al-Asmakh, J. Stukenborg, A. Reda, F. Anuar, M. Strand, Lars Hedin, S. Pettersson, O. Söder   +7 more
semanticscholar   +1 more source

Identification of Transdiagnostic Childhood Externalizing Pathology Within an Electronic Medical Records Database and Application to the Analysis of Rare Copy Number Variation

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Externalizing traits and behaviors are broadly defined by impairments in self‐regulation and impulse control that typically begin in childhood and adolescence. Externalizing behaviors, traits, and symptoms span a range of traditional psychiatric diagnostic categories.
India A. Reddy, Lide Han, Sandra Sanchez‐Roige, Maria Niarchou, Douglas M. Ruderfer, Lea K. Davis   +5 more
wiley   +1 more source

Ukuran Besar Testis Anak Laki-laki pada Saat Awitan Pubertas

Sari Pediatri, 2016
Latar belakang: data memperlihatkan terjadi perubahan usia awitan pubertas pada anak laki-laki dalam beberapa dekade belakangan ini. Hal ini mungkin disebabkan adanya perbaikan kondisi sosioekonomi, status gizi, kesehatan umum dalam jangka waktu tertentu
Hakimi Hakimi, Charles D. Siregar, Melda Deliana, Lily Rahmawati   +3 more
doaj   +1 more source

Correction to: Are serum levels of 25-hydroxy vitamin D reduced following orchiectomy in testicular cancer patients?

Basic and Clinical Andrology, 2021
Klaus-Peter Dieckmann, Osama Andura, Uwe Pichlmeier, Klaus Martin Otte, Hendrik Isbarn, Christian Wülfing   +5 more
doaj   +1 more source