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Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants. [PDF]
Front GenetJiali C +4 more
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Advanced Science, EarlyView.Neuronal PKM2‐driven glycolysis generates excess lactate that triggers histone H3K18 lactylation (H3K18la), establishing a pathogenic metabolic‐epigenetic axis in epilepsy. Elevated H3K18la enriches the Cop1 promoter, transcriptionally upregulating the E3 ubiquitin ligase COP1, which subsequently drives proteasomal degradation of GABAARβ2 and impairs ...
Yuan Meng +8 more
wiley +1 more source
Advanced Science, EarlyView.ABSTRACT Diabetes mellitus‐induced erectile dysfunction (DMED) is a highly prevalent complication among diabetic patients; however, its underlying pathogenic mechanisms remain incompletely understood. Metabolic disorder is a hallmark of diabetes, yet its precise contribution to DMED progression is not well defined.
Wanyang Guo +14 more
wiley +1 more source
Disorders of sex development [PDF]
Best Practice and Research in Clinical Obstetrics and Gynaecology, 2018 Normal sex development depends on the precise spatio-temporal sequence and coordination of mutually antagonistic activating and repressing factors. These factors regulate the commitment of the unipotential gonad into the binary pathways governing normal sex development. Typically, the presence of the SRY gene on the Y chromosome triggers the cascade of
Selma Feldman Witchel
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Pediatrics In Review, 2021
1. Alejandro Diaz, MD*,† 2. Elizabeth G. Lipman Diaz, PhD, ARNP, CPNP‡ 1. *Nicklaus Children’s Hospital, Miami, FL 2. †Herbert Wertheim College of Medicine, Florida International University, Miami, FL 3. ‡University of Miami School of Nursing and Health Studies, Coral Gables, FL * Abbreviations: AMH: : anti-mullerian hormone
Alejandro, Diaz +1 more
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1. Alejandro Diaz, MD*,† 2. Elizabeth G. Lipman Diaz, PhD, ARNP, CPNP‡ 1. *Nicklaus Children’s Hospital, Miami, FL 2. †Herbert Wertheim College of Medicine, Florida International University, Miami, FL 3. ‡University of Miami School of Nursing and Health Studies, Coral Gables, FL * Abbreviations: AMH: : anti-mullerian hormone
Alejandro, Diaz +1 more
+5 more sources
Seminars in Fetal and Neonatal Medicine, 2011
Infants born with ambiguous genitalia represent a complex clinical challenge. A systematic clinical investigation aims at determining the hormone production and which anatomical structures are present in order to understand at what level the sex differentiation has been affected; chromosomal, gonadal or hormonal synthesis and action levels.
M, Barbaro, A, Wedell, A, Nordenström
openaire +3 more sources
Infants born with ambiguous genitalia represent a complex clinical challenge. A systematic clinical investigation aims at determining the hormone production and which anatomical structures are present in order to understand at what level the sex differentiation has been affected; chromosomal, gonadal or hormonal synthesis and action levels.
M, Barbaro, A, Wedell, A, Nordenström
openaire +3 more sources
Management of disorders of sex development
Nature Reviews Endocrinology, 2014The medical term disorders of sex development (DSDs) is used to describe individuals with an atypical composition of chromosomal, gonadal and phenotypic sex, which leads to differences in the development of the urogenital tract and reproductive system.
Olaf Hiort +2 more
exaly +3 more sources