Results 21 to 30 of about 5,340 (169)

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

Nature Communications, 2023
Squamous cell carcinoma antigen recognized by T cells 3 (SART3) is an RNA-binding protein with numerous biological functions including recycling small nuclear RNAs to the spliceosome.
Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair   +42 more
doaj   +1 more source

Achondroplasia Associated with Gonadal Dysgenesis

Journal of International Medical Research, 2008
A 45-year-old woman with short stature and primary amenorrhoea was admitted during a health-screening programme. Physical examination revealed a shortness of proximal legs and arms, short stature and other clinical properties of achondroplasia. Secondary sexual characteristics assessment showed axillary hair stage 5, breast stage 4 and pubic hair stage
C, Gokce, M E, Atabek, E M, Atabek, L, Kaynar, E, Torun, S, Kurtoglu, F, Bayram   +6 more
openaire   +3 more sources

Swyer syndrome: The gender swayer?

Alexandria Journal of Medicine, 2017
46XY complete gonadal dysgenesis (SWYER SYNDROME) is a rare type of Disorder of Sex Development. Herein we report a 15 years-old child, reared as female, presented with complaints of primary amenorrhoea, without short stature or Turner’s stigmata ...
Jaideep Khare, Prasun Deb, Prachi Srivastava, Babul H. Reddy   +3 more
doaj   +1 more source

Mixed gonadal dysgenesis in 45,X Turner syndrome with gene [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2015
Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male.
Jae Yeop Jung, Sohyoung Yang, Eun-Hwan Jeong, Ho-Chang Lee, Yong-Moon Lee, Heon-Seok Han, Kyung Hee Yi   +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

CRISPR/Cas9-mediated simultaneous knockout of Dmrt1 and Dmrt3 does not recapitulate the 46,XY gonadal dysgenesis observed in 9p24.3 deletion patients

Biochemistry and Biophysics Reports, 2017
DM domain transcription factors play important roles in sexual development in a wide variety of species from invertebrate to humans. Among seven mammalian family members of DM domain transcription factors, DMRT1 has been studied in mouse and human for ...
Masafumi Inui, Moe Tamano, Tomoko Kato, Shuji Takada   +3 more
doaj   +1 more source

Nucleoporin107 mediates female sexual differentiation via Dsx

eLife, 2022
We recently identified a missense mutation in Nucleoporin107 (Nup107; D447N) underlying XX-ovarian-dysgenesis, a rare disorder characterized by underdeveloped and dysfunctional ovaries.
Tikva Shore, Tgst Levi, Rachel Kalifa, Amatzia Dreifuss, Dina Rekler, Ariella Weinberg-Shukron, Yuval Nevo, Tzofia Bialistoky, Victoria Moyal, Merav Yaffa Gold, Shira Leebhoff, David Zangen, Girish Deshpande, Offer Gerlitz   +13 more
doaj   +1 more source

Modern competency‐based teaching of human sexual development

Anatomical Sciences Education, EarlyView.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler, Alessandro Bilella, Christian M. Hammer   +2 more
wiley   +1 more source

#332 : A Rare Case Report of Mixed Gonadal Dysgenesis with MOS 46, XY, 47,XY+21, 45,X Karyotype

Fertility & Reproduction, 2023
Background and Aims: Mixed gonadal dysgenesis is a condition of unusual and asymmetrical gonadal development leading to an unassigned sex differentiation. A number of differences have been reported in the karyotype, most commonly a mosaicism 45, X/46, XY.
Meycha Dafhonsa, Uki Retno Budihastuti, Eriana Melinawati   +2 more
doaj   +1 more source

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

British Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay, Amandine Manon, Hunter Stephens, S. Y. Amy Cheung, Bart de Keizer, Erik T. te Beek   +5 more
wiley   +1 more source