Results 71 to 80 of about 8,273 (242)

A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant

Human Genome Variation, 2021
An infant with 46,XY karyotype, and unambiguous female phenotype was found to have testes in the inguinal regions. Capillary sequencing of the androgen receptor (AR) gene identified a hemizygous de novo mutation (NM_000044.6:c.1621G > T) in exon 2 ...
Kok-Siong Poon, Karen Mei-Ling Tan, Kah Yin Loke   +2 more
doaj   +1 more source

Variable loss of functional activities of androgen receptor mutants in patients with androgen insensitivity syndrome [PDF]

, 2013
Androgen receptor (AR) mutations in androgen insensitivity syndrome (AIS) are associated with a variety of clinical phenotypes. The aim of the present study was to compare the molecular properties and potential pathogenic nature of 8 novel and 3 ...
Akker, E.L.T. (Erica) van den, Bisschop, P.H. (Peter), Bosch, R. (Rolien), Brinkmann, A.O. (Albert), Brüggenwirth, H.T. (Hennie), Bunch, T. (Trevor), Bunck, M.C.M., Cools, M.B.C.M. (Martine), Drop, S.L.S. (Stenvert), Elfferich, P.C., Faradz, S.M.H. (Sultana), Houtsmuller, A.B. (Adriaan), Hughes, I.A. (Ieuan), Lusher, S.J. (Scott), Oostdijk, W. (Wilma), Royen, M.E. (Martin), Trapman, J. (Jan), Wijngaart, D.J. (Dennis) van de   +17 more
core   +2 more sources

Biocompatible Chemistry: A Plug‐and‐Play Toolbox for Chemical Biology Research

ChemBioChem, Volume 26, Issue 23, November 27, 2025.
The “plug‐and‐play” nature of biocompatible chemistry makes it a powerful toolbox for investigating complicated biological systems and producing drug leads for clinical usages. This review summarizes the commonly used biocompatible reactions and the recent advances of their representative applications in chemical biology research, thus highlighting the
Adam R. Lovato, Zeng Lin, Qingfei Zheng
wiley   +1 more source

Newborn with incarcerated inguinal hernia and complete androgen insensitivity syndrome

Journal of Pediatric Surgery Case Reports, 2020
Disorders of sex development represent a large and heterogeneous group of diseases that have an important impact on physical and mental well-being of patients and their families.
Giulia Mottadelli, Elisa Zambaiti, Laura Guazzarotti, Calogero Virgone, Piergiorgio Gamba   +4 more
doaj   +1 more source

Complete androgen insensitivity syndrome, a pedigree gene mutation analysis [PDF]

, 2016
研究背景 雄激素不敏感综合征（AndrogenInsensitivitySyndrome，AIS），是一种常见的男性假两性畸形。是伴X连锁隐性遗传病。患者染色体核型为46，XY，但其X染色体上的雄激素受体（Androgenreceptor，AR）基因存在缺陷，可致雄激素靶器官上的AR出现缺陷，体内的雄激素不能发挥相应的作用而出现相应的临床症状。此疾病可对患者的生殖能力造成不同程度的影响，还可能引发与性发育异常相关的性心理、性行为的异常，并可能给社会和患者家庭造成难以挽回的损失 ...
杨瑞娟
core  

Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome [PDF]

, 2016
Background: The 46,XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development pathways in utero. The cause is usually genetic and various genes are implicated.
Chong, C.E., De Sousa, S.M.C., Kassahn, K.S., McIntyre, L.C., Scott, H.S., Torpy, D.J.   +5 more
core   +2 more sources

Extracellular Vesicles Released From Prostate Cancer Cells Confer Pro‐Tumor Properties to Adipocytes by Stimulating Lipolysis

BioFactors, Volume 51, Issue 6, November/December 2025.
Extracellular vesicles (EVs) from prostate cancer (PCa) cells induce the release of fatty acids (FFAs) from adipocytes, which in turn sustain tumor cell proliferation and migration via Akt activation. ABSTRACT There is consistent evidence of an association between obesity and the risk of prostate cancer (PCa). A crosstalk between PCa and adipocytes has
Gaia Giannitti, Kinga Kamińska, Sara Marchesi, Riccardo Garavaglia, Ivan Preosto, Małgorzata Grzesiak, Fabrizio Fontana   +6 more
wiley   +1 more source

Complete androgen insensitivity syndrome

Medicinski vjesnik, 2007
Sindrom potpune neosjetljivosti na anđrogene otkriva se u djevojčica adolescentne dobi s izostankom menarhe ili djevojčica mlađe dobi s ingvinalnom hernijom. Ginekološki nalaz otkriva izostanak razvoja struktura koje nastaju od Miillerovih kanala (maternice, jajovoda i gornjega dijela vagine).
Wagner, Jasenka, Škrlec, Ivana, Štibi, Sanela, Viljetić, Barbara, Pušeljić, Silvija, Stipoljev, Feodora, Heffer-Lauc, Marija   +6 more
openaire   +1 more source

Meta-analysis of Androgen Insensitivity in Preoperative Hormone Therapy in Hypospadias. [PDF]

, 2015
OBJECTIVE: To define androgen insensitivity prevalence in hypospadias patients treated with preoperative hormone therapy. MATERIALS AND METHODS: We searched databases that were published in English and Chinese up to September 10, 2014 for our studies ...
Ahmed, Chalapathi, Davits, Fievet, Gearhart, Gilliver, Gorduza, Grino, Hughes, Hughes, Ishii, Ji-Liang Li, Jianchun Yin, Jinjin Xie, Jones, Kalfa, Kaya, Koff, Li, Luo, Malik, McPhaul, Monfort, Nerli, Netto, Sakakibara, Shih, Snodgrass, Sterne, Tsur, Wang, Wanhua Xu, Weiguang Zhao, Wright, Yingtian Zhang, Zhang, Zhilin Yang   +36 more
core   +1 more source

Elevating and empowering reproductive futures: Pediatric and adolescent gynecology's specialized care across the globe

International Journal of Gynecology &Obstetrics, Volume 171, Issue 2, Page 528-537, November 2025.
Abstract Pediatric and adolescent gynecology (PAG) is an expanding subspecialty of obstetrics and gynecology that addresses the reproductive health needs of girls and young women worldwide. In regions with limited subspecialist healthcare providers, general obstetricians, gynecologists, and nurse‐midwives, frontline healthcare providers provide ...
Nichole A. Tyson, Méabh Ní Bhuinneáin, Hema Divakar, Lauren Mauger, Judith Simms Cendan, Marisa Labovsky, FIGO Committee on Adolescent and Youth Health   +6 more
wiley   +1 more source