Results 71 to 80 of about 119,945 (311)

Disorders of sex development: challenges for the future [PDF]

, 2012
No abstract ...
Ahmed, Ahmed, Ahmed, Bashamboo, Camats, Ferraz-de-Souza, Hughes, Idkowiak, Kyriakie Sarafoglou, Ledig, Pasterski, Pearlman, S. Faisal Ahmed, Sarafoglou, Sarafoglou   +14 more
core   +1 more source

21-hydroxylase deficiency and fertility

Medical alphabet, 2020
21-hydroxylase deficiency is the most common genetically determined adrenal steroidogenesis defect. One of the consequences of the disease developing as a result of this defect, congenital dysfunction of the adrenal cortex (CDAC), is a decrease in fertility in the form of infertility or early pregnancy loss.
M. M. Amiraslanova, I. V. Kuznetsova
openaire   +2 more sources

An Accessible Microfluidic Platform for the Generation of Polarized Brain Organoids

Advanced Materials Technologies, EarlyView.
This study presents an accessible double‐gradient microfluidic device that enables controlled morphogen delivery and spatially polarized differentiation in brain organoids. By integrating a pump‐free design and stable fabrication method, the platform generates dorsal–ventral neuronal asymmetry, offering a reproducible and versatile approach to model ...
Daniel Pérez‐Calixto, Manuel Alejandro Vazquez Valle, Mitzi Pérez‐Calixto, Cindy Peto‐Gutiérrez, Iván Velasco, Genaro Vázquez‐Victorio, Itzel Escobedo‐Avila   +6 more
wiley   +1 more source

Déficit de 21-hidroxilasa: aspectos actuales Deficiency of 21-hydroxylase: current aspects

Revista de Ciencias Médicas de Pinar del Río, 2009
La hiperplasia suprarrenal congénita (HSC) es una de las alteraciones autosómicas recesivas más frecuentes, caracterizada por un defecto enzimático en la síntesis de cortisol, la causa es en el 95% de los casos, la deficiencia de la enzima 21-hidroxilasa
Deysi Licourt Otero, Martha María Pérez Martín   +1 more
doaj  

Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant

Frontiers in Pediatrics, 2020
Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes (cholesterol side-chain cleavage enzyme; 3β-hydroxysteroid dehydrogenase; 17α-hydroxylase/17,20 lyase; P450 oxidoreductase; 21 ...
Antonio Balsamo, Federico Baronio, Rita Ortolano, Soara Menabo, Lilia Baldazzi, Valeria Di Natale, Sofia Vissani, Alessandra Cassio   +7 more
doaj   +1 more source

Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants

JCRPE, 2021
Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), usually due to biallelic variants in CYP21A2. Classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in females ...
Tuğba Kontbay, İhsan Turan
doaj   +1 more source

Growth Pattern of Untreated Boys with Simple Virilizing Congenital Adrenal Hyperplasia Indicates Relative Androgen Insensitivity during the First Six Months of Life [PDF]

, 2010
Context: Mild forms of simple virilizing congenital adrenal hyperplasia (CAH) may be missed in newborn screening. In the pre-newborn-screening era, missed diagnosis of simple virilizing CAH was not infrequent in boys.
Bonfig, W., Schwarz, H. P.
core   +1 more source

A Central Somatic Transmission Mediates Proprioceptive Facilitation of Muscle Pain

Advanced Science, EarlyView.
Zhang et al. uncover a novel central mechanism for persistent muscle pain, in which TRPA1 sensitization in MeV proprioceptive neurons enhances somatic secretion. This, in turn, disinhibits descending pain control from neighboring noradrenergic locus coeruleus neurons via local GABAergic circuits, thereby promoting inflammatory muscle pain.
Xiaoyu Zhang, Jiale Yang, Xi Wu, Jie Li, Fujian Lu, Yiman Li, Xingyu Du, Rong Huang, Jamila Asgar, Jing Wang, Ke Ren, Feipeng Zhu, Changhe Wang, Yehua Gan, Feng Wei, Zhuan Zhou   +15 more
wiley   +1 more source

Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions [PDF]

, 2002
Steroid 21-hydroxylase deficiency is caused by a defect in the CYP21A2 gene. CYP21A2, the adjacent complement C4 gene and parts of the flanking genes RP1 and TNXB constitute a tandemly duplicated arrangement in the central (class III ...
Degenhart, H.J. (Herman), Hoogenboezem, T. (Theo), Koppens, P.F.J.   +2 more
core   +2 more sources

Gut Mycobiota‐Associated Tryptophan Catabolites Protect Against Metabolic Dysfunction‐Associated Steatotic Liver Disease

Advanced Science, EarlyView.
ABSTRACT Accumulating evidence suggests that the intestinal microbiota participates in the progression of metabolic dysfunction‐associated steatotic liver disease (MASLD) through microbiota‐host interaction. However, the beneficial role of commensal mycobiota in MASLD progression remains poorly understood.
Shuping Qiao, Shuangya Fan, Juan Xu, Zhen Xu, Chen Peng, Junxing Qu, Ziqian Bing, Shizhen Zhou, Sunan Shen, Guifang Xu, Yue Zhao, Tingting Wang   +11 more
wiley   +1 more source