Results 61 to 70 of about 167,087,863 (243)

Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells

Taiwanese Journal of Obstetrics & Gynecology, 2021
Objective: Sex chromosome mosaicism remains challenging in the study of disorders of sex development (DSD). Aneuploid cells in the developing gonad play a major role in sex determination. Therefore, it is necessary acknowledge their presence by different
Rosalba Sevilla-Montoya, Maria de Jesus Zavaleta-Abreu, Gloria Queipo, Silvia Sanchez, Sara Frias, Alberto Hidalgo-Bravo, Patricia Grether-González   +6 more
doaj   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya

Clinical Case Reports
Differences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex.
Christian Omoaghe
doaj   +1 more source

Microbial‐Metabolite Signatures Are Associated With Glucocorticoid Responsiveness in Chronic Rhinosinusitis With Nasal Polyps

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Patients with chronic rhinosinusitis with nasal polyps (CRSwNP) exhibit heterogeneous responses to oral glucocorticoids (GCs), but the biological basis of this variability remains unclear. Objective To identify gut microbiome‒plasma metabolomic signatures associated with GC responsiveness in CRSwNP patients and to compare their ...
Ying‐Ying Zhang, Xin‐Yu Ding, Mei‐Ping Lu, Yan‐Bing Chen, Ye Yuan, Lin Jiang, Min Zhang, Lei Cheng   +7 more
wiley   +1 more source

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease–Like Autoinflammatory Syndrome

Arthritis &Rheumatology, EarlyView.
Objective Still disease represents a prototypical polygenic systemic autoinflammatory disease, characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still disease remains unreported.
Longfang Chen, Qihua Dai, Yu Xiao, Jialin Dai, Mengyan Wang, Yuning Ma, Yujie Shen, Zhimo Xu, Jianfen Meng, Xia Chen, Da Yi, Yue Sun, Hui Shi, Honglei Liu, Xiaobing Cheng, Yutong Su, Junna Ye, Huihui Chi, Zhuochao Zhou, Tingting Liu, Jialin Teng, Chengde Yang, Jinchao Jia, Qiongyi Hu   +23 more
wiley   +1 more source

Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes

BMC Genomics, 2009
Background Gender appears to be determined by independent programs controlled by the sex-chromosomes and by androgen-dependent programming during embryonic development.
Appari Mahesh, Cario Gunnar, Richter-Unruh Annette, Demeter Janos, Werner Ralf, Bebermeier Jan-Hendrik, Holterhus Paul-Martin, Siebert Reiner, Riepe Felix, Brooks James D, Hiort Olaf   +10 more
doaj   +1 more source

Genetic and population analyses implicate thyroid‐related regulation of RNF144B in chondrocalcinosis

Arthritis &Rheumatology, Accepted Article.
Objectives Chondrocalcinosis, characterized by calcium crystal deposition within articular cartilage, affects 5–15% of the general population and has recently been identified as an osteoarthritis risk factor. However, Its biological pathways remain unclear.
Yahong Wu, Yanning Xu, Paul C. Okoro, Sirine Saafi, Jard de Vries, Xiaoyi Qi, Edwin H.G. Oei, Sita Bierma‐Zeinstra, Trudy Voortman, David Felson, Joyce BJ van Meurs, Layal Chaker, J. Mark Wilkinson, Michelle S. Yau, Jessica Bertrand, Cindy G. Boer   +15 more
wiley   +1 more source

Rare presentations of Swyer syndrome in a 13.5-year-old female; a case report and literature review

BMC Pediatrics
Background Swyer syndrome (SS), or 46, XY pure gonadal dysgenesis, is a rare disorder of sex development. It typically presents with primary amenorrhea and an absence of secondary sexual characteristics.
Alireza Sadeghi, Romina Rezaei, Zahra Razavi, Amir Mohammad Salehi, Arash Dehghan   +4 more
doaj   +1 more source

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure [PDF]

, 2005
Disruption of the P450 side-chain cleavage cytochrome (P450scc) enzyme due to deleterious mutations of the CYP11A1 gene is thought to be incompatible with fetal survival because of impaired progesterone production by the fetoplacental unit.
Werner, R, Hiort, O, Achermann, JC, Riepe, FG, Partsch, CJ, Holterhus, PM, Marschke, C, Hoppe, U, Struve, D   +8 more
core  

Human Monocytic Models Reveal Genotype‐Dependent Inflammatory Programs in VEXAS Syndrome

Arthritis &Rheumatology, Accepted Article.
Objectives VEXAS syndrome is a severe X‐linked autoinflammatory disorder caused by somatic mutations in ubiquitin‐like modifier activating enzyme 1 (UBA1), with clinical outcomes that vary by UBA1 genotype. We aimed to elucidate genotype‐specific inflammatory programs and identify potential therapeutic targets.
Kana Higashitani, Tatsuma Ban, Yohei Kirino, Go R Sato, Soichiro Adachi, Yuki Iizuka, Kayo Harita, Ayaka Maeda, Osamu Ohara, Hideaki Nakajima, Tomohiko Tamura   +10 more
wiley   +1 more source