Results 61 to 70 of about 103,707 (311)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli   +11 more
wiley   +1 more source

Relación hormonal en el desarrollo crónico del espectro esquizofrénico y otros trastornos psicóticos en pacientes adolescentes: Actualización de la literatura

open access: yesRevista de Medicina e Investigación Universidad Autónoma del Estado de México
Adolescence is established as an important stage in the human being, we try to show how positive or negative this stage can be in the development of an adequate environment, elucidating the benefits or consequences that can affect the ...
Ignacio Uriel Macias Paz   +5 more
doaj   +1 more source

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development [PDF]

open access: yes, 2011
Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling ...
AJ Notini   +32 more
core   +1 more source

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

open access: yesAnimal 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   +5 more
wiley   +1 more source

Extracellular vesicles in stem cell-based gonadal regeneration: mechanisms, therapeutic potential, and translational challenges

open access: yesFrontiers in Veterinary Science
Gonadal dysfunction resulting from conditions such as premature ovarian insufficiency, chemotherapy-induced damage, or genetic disorders often leads to infertility and hormone imbalance. Although assisted reproductive technologies and hormone replacement
Rodrigo Paolo Flores Abuna   +3 more
doaj   +1 more source

SEX DETERMINATION AND CONTROL MECHANISMS IN BIRDS [PDF]

open access: yesBiotechnologia Acta, 2013
The modern conception of genetic bases of bird’s sex determination is considered. Following the genotypic mechanism of sex determination, birds implement a complex system of sex chromosome relationships.
M. T. Tagirov
doaj   +1 more source

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

open access: yesAnimal 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   +6 more
wiley   +1 more source

Dynamic testing for evaluation of adrenal and gonadal function in pediatric and adult endocrinology: An overview

open access: yesIndian Journal of Endocrinology and Metabolism, 2019
Dynamic tests are often considered as the backbone of endocrinology. These tests involve the use of an exogenous agent to manipulate the body's hormonal milieu for the diagnosis and characterization of an endocrine disorder.
Alpesh Goyal   +4 more
doaj   +1 more source

PHYSIOLOGICAL ASPECTS OF GROWTH, GENDER CYCLE AND RIPENING OF SO-IUY MULLET (LIZA HAEMATOCHEILUS, TEMMINCK & SHLEGEL) IN THE AZOV-BLACK SEA POOL

open access: yesВетеринарная патология, 2020
The analysis of the physiological state of the so-iuy mullet of the Azov-Black sea basin at different periods of the life cycle is carried out. Metabolic parameters in the period of growth and maturation of so-iuy mullet are estimated.
G. G. Kornienko   +6 more
doaj   +1 more source

A contribution to the anatomy of two rare cetacean species: The hourglass dolphin (Cephalorhynchus cruciger) and the spectacled porpoise (Phocoena dioptrica)

open access: yesThe Anatomical Record, EarlyView.
Abstract The anatomical description of the hourglass dolphin (Cephalorhynchus cruciger) and the spectacled porpoise (Phocoena dioptrica) remains largely unexplored, due to limited specimen availability and preservation challenges. This study employed digital imaging techniques, conventional histology, and computed tomography to provide visualization of
Jean‐Marie Graïc   +26 more
wiley   +1 more source

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