Results 71 to 80 of about 77,179 (233)

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Two cases of gonad retention in adolescent patients with complete androgen insensitivity syndrome (CAIS)

Journal of Pediatric Surgery Case Reports, 2020
Bilateral gonadectomy was the historical recommendation for patients diagnosed with complete androgen insensitivity syndrome (CAIS) due to the perceived risk of malignancy in the gonads.
Samantha M. Nemivant, Kathleen van Leeuwen, Erica M. Weidler   +2 more
doaj   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Investigation of \u3cem\u3ede novo\u3c/em\u3e cholesterol synthetic capacity in the gonads of goldfish (\u3cem\u3eCarassius auratus\u3c/em\u3e) exposed to the phytosterol beta-sitosterol [PDF]

, 2006
Total and intra-mitochondrial gonadal cholesterol concentrations are decreased in fish exposed to the phytoestrogen beta-sitosterol (beta-sit). The present study examined the potential for beta-sit to disrupt de novo cholesterol synthesis in the gonads ...
Drolet, Melissa, MacLatchy, Deborah L., Sharpe, Rainie L.   +2 more
core   +1 more source

Novas perspectivas no diagnóstico do hipogonadismo pediátrico masculino: a importância do AMH como marcador de células de Sertoli [PDF]

, 2011
Sertoli cells are the most active cell population in the testis during infancy and childhood. In these periods of life, hypogonadism can only be evidenced without stimulation tests, if Sertoli cell function is assessed.
Grinspon, Romina, Rey, Rodolfo Alberto
core   +2 more sources

Optimization and verification of high‐fat diet formulation for establishing a rat model of obesity‐related precocious puberty

Animal Models and Experimental Medicine, EarlyView.
We identified 45% HFD as the optimal formulation to establish a juvenile rat model of obesity‐related precocious puberty. It elicits robust phenotypic (early vaginal opening, obesity), histological (advanced ovarian development), and endocrine (elevated HPG axis hormones) alterations, with leptin‐mediated GnRH secretion as a core mechanistic driver ...
Jiayi Gong, Wei Qian, Deji Song, Kang Li, Li Zhang, Li Shi   +5 more
wiley   +1 more source

Perkembangan Gonad Ikan Sidat (Anguilla Marmorata) Di Danau Poso [Gonads Development of Eels (Anguilla Marmorata) in Lake Poso] [PDF]

, 2008
The gonads condition of eels (Anguilla marmorata) in Lake Poso was studied. The aim of this research is to identify gonads development of eel in Lake Poso and estuary of Poso River.
Haryani, G. S. (Gadis), Lukman, N. (nFN), Triyanto, N. (nFN)   +2 more
core  

A preclinical mouse model mimicking the ovarian cancer‐induced estrogen deficiency‐depression axis

Animal Models and Experimental Medicine, EarlyView.
A preclinical mouse model of ovarian cancer–related depression was developed by combining intraperitoneal tumor cell injection, ovariectomy, and chronic restraint stress. The model replicates key clinical features including estrogen deficiency, depressive‐like behaviors, and tumor progression, and provides a reliable tool for studying the endocrine ...
Jiamin Liu, Yafei Yang, Chunxi Liu, Danting Wen, Tingyu Zhao, Ping Xie, Jing Xiao   +6 more
wiley   +1 more source

Testicular differentiation in 46,XX DSD: an overview of genetic causes

Frontiers in Endocrinology
In mammals, the development of male or female gonads from fetal bipotential gonads depends on intricate genetic networks. Changes in dosage or temporal expression of sex-determining genes can lead to differences of gonadal development.
Maria Tereza Martins Ferrari, Elinaelma Suelane do Nascimento Silva, Mirian Yumie Nishi, Rafael Loch Batista, Berenice Bilharinho Mendonca, Berenice Bilharinho Mendonca, Sorahia Domenice   +6 more
doaj   +1 more source

Estimation and rapid identification of later stages during embryonic development of the oviparous lizard Sceloporus aeneus (Squamata: Phrynosomatidae)

The Anatomical Record, EarlyView.
Abstract Stages of embryonic development for reptiles have been presented in tables that may include all or part of embryonic development. When oviposition occurs in some lizards, embryos are already in the later stages of development; likewise, the size of the eggs increases as incubation time progresses.
Nivia Rocio Antonio‐Rubio, Maricela Villagrán‐SantaCruz, Martha Elena Díaz‐Hernández, Norma Moreno‐Mendoza   +3 more
wiley   +1 more source