Results 61 to 70 of about 2,015 (159)

Human Pituitary Organoids: Transcriptional Landscape Deciphered by scRNA‐Seq and Stereo‐Seq, with Insights into SOX3's Role in Pituitary Development

Advanced Science, Volume 12, Issue 14, April 10, 2025.
An optimized protocol is developed to differentiate human iPSCs into pituitary organoids and the cellular composition, intercellular interactions, and spatial organization within pituitary organoids are characterized via scRNA‐seq and Stereo‐seq.
Shengjie Wang, Deyue Jiang, Yan Xiao, Qiaozhen Qin, Heyang Zhang, Lingtong Ye, Jide Jin, Xiaoxia Jiang, Qinghua Guo   +8 more
wiley   +1 more source

Congenital hypopituitarism in familial Turner syndrome cases caused by a highly prevalent PROP1 gene mutation in Tunisia

Endocrine and Metabolic Science
Background: Turner syndrome (TS) is a genetic disorder found only in females who are completely or partially missing an X chromosome. It is rarely inherited from parent to offspring and is not reported to be associated with any causal gene.
Hassen Hadj Kacem, Mariam Moalla, Faten Hadj Kacem, Oumeyma Trimeche, Wajdi Safi, Mouna Mnif-Feki, Mohamed Abid   +6 more
doaj   +1 more source

CSNK2B Mutation: A Rare Cause of IGHD

Clinical Endocrinology, Volume 102, Issue 4, Page 421-426, April 2025.
ABSTRACT Objective Poirier‐Bienvenu neurodevelopmental syndrome (POBINDS) is a rare neurodevelopmental syndrome, resulting from germline heterozygous CSNKB2 pathogenic variants. The main presentations are severe epilepsy, delayed psychomotor development, and/or profound intellectual disability.
Karine Aouchiche, Pauline Romanet, Anne Barlier, Thierry Brue, Morgane Pertuit, Rachel Reynaud, Alexandru Saveanu   +6 more
wiley   +1 more source

Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR

Endocrine Connections, 2019
Aim: Congenital hypopituitarism has an incidence of 1:3500–10,000 births and is defined by the impaired production of pituitary hormones. Early diagnosis has an impact on management and genetic counselling.
Marilena Nakaguma, Fernanda A Correa, Lucas S Santana, Anna F F Benedetti, Ricardo V Perez, Martha K P Huayllas, Mirta B Miras, Mariana F A Funari, Antonio M Lerario, Berenice B Mendonca, Luciani R S Carvalho, Alexander A L Jorge, Ivo J P Arnhold   +12 more
doaj   +1 more source

Evaluation of novel SNPs and haplotypes within the ATBF1 gene and their effects on economically important production traits in cattle [PDF]

Archives Animal Breeding, 2017
AT motif binding factor 1 (ATBF1) gene can promote the expression level of the growth hormone 1 (GH1) gene by binding to the enhancers of the POU1F1 and PROP1 genes; thus, it affects the growth and development of livestock.
H. Xu, S. Zhang, X. Zhang, R. Dang, C. Lei, H. Chen, X. Lan   +6 more
doaj   +1 more source

Isolated Growth Hormone Deficiency IA due to a Novel Homozygous Large Deletion ∼1.6 kb Spanning Exons 1–4 of GH1 Gene: A Case Report

Clinical Case Reports, Volume 13, Issue 2, February 2025.
ABSTRACT Isolated growth hormone deficiency (IGHD) IA is inherited autosomal recessively and occurs due to GH1 gene deletions. This study emphasizes the importance of clinical diagnosis and molecular examination for detecting novel mutations to prevent misdiagnosis and to consider timely and appropriate management of the current and long‐term ...
Shahab Noorian, Hedieh Soltani, Fatemeh Aghamahdi, Shahram Savad, Mahnaz Seifi Alan   +4 more
wiley   +1 more source

Gene polymorphisms in PROP1 associated with growth traits in sheep

, 2019
The PROP paired-like homeobox 1 (PROP1) gene encodes a protein that regulates growth and development in mammals. Possessing DNA-binding and transcriptional activation abilities, PROP1 is able to control the expression of crucial anterior pituitary ...
Amirpour-Najafabadi, H, Ekegbu, UJ, Hickford, Jonathan, Zhou, Huitong, Burrows, L   +4 more
core   +1 more source

Multi-tissue omics analyses reveal molecular regulatory networks for puberty in composite beef cattle. [PDF]

PLoS ONE, 2014
Puberty is a complex physiological event by which animals mature into an adult capable of sexual reproduction. In order to enhance our understanding of the genes and regulatory pathways and networks involved in puberty, we characterized the transcriptome
Angela Cánovas, Antonio Reverter, Kasey L DeAtley, Ryan L Ashley, Michelle L Colgrave, Marina R S Fortes, Alma Islas-Trejo, Sigrid Lehnert, Laercio Porto-Neto, Gonzalo Rincón, Gail A Silver, Warren M Snelling, Juan F Medrano, Milton G Thomas   +13 more
doaj   +1 more source

NR5A1 and cell population heterogeneity: Insights into developmental and functional disparities and regulatory mechanisms

Reproductive Medicine and Biology, Volume 24, Issue 1, January/December 2025.
Abstract Background NR5A1 plays essential roles in the development of various tissues, including the ventromedial hypothalamus, pituitary gonadotrope, adrenal cortex, spleen, testis, and ovary. Additionally, NR5A1‐positive cells in these tissues exhibit developmental and functional heterogeneity.
Miki Inoue, Kanako Miyabayashi, Yuichi Shima   +2 more
wiley   +1 more source

Permanent Congenital Hypothyroidism due to Rare Thyroglobulin Gene Variant (p.Cys1476Arg): A Delayed Diagnosis of Thyroid Dyshormonogenesis

Case Reports in Medicine, Volume 2025, Issue 1, 2025.
Thyroid dyshormonogenesis is an inherited hypothyroidism caused by a monogenic defect, in the vast majority of cases, in thyroid hormone biosynthesis. It is commonly associated with thyroid enlargement which is vulnerable to nodule formation. We present a Qatari patient with an overlooked diagnosis of thyroid dyshormonogenesis due to thyroglobulin gene
Ghassan Mohamadsalih, Khalid Al Bureshad, Idris Mohammed, Shiga Chirayath, Elwaseila Hamdoun, Khalid Hussain, Poulami Jha   +6 more
wiley   +1 more source