Results 41 to 50 of about 1,174,652 (161)

Genetics of 46,XY gonadal dysgenesis

, 2022
International audienceIn 46,XY men, testis is determined by a genetic network(s) that both promotes testis formation and represses ovarian development. Disruption of this process results in a lack of testis-determination and affected individuals present ...
Mcelreavey, Ken, Elzaiat, Maëva, Bashamboo, Anu   +2 more
core   +1 more source

Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study

Endocrine Connections, 2023
Diagnosis and management strategy of disorders of sex developme nt (DSD) are difficult and various due to heterogeneous phenotype and genotype. Under widespread use of genomic sequencing technologies, multiple genes and mechanisms have been identified ...
Yijun Tang, Yao Chen, Jiayi Wang, Qianwen Zhang, Yirou Wang, Yufei Xu, Xin Li, Jian Wang, Xiumin Wang   +8 more
doaj   +1 more source

Research progress in the role of DHX37 gene in disorders of sex development

Shanghai Jiaotong Daxue xuebao. Yixue ban
Disorders of sex development (DSD) are a group of conditions with strong clinical phenotype heterogeneity, and the incidence of DSD in the population is 1/5 000 to 1/4 500.
LIU Bei, HE Jing
doaj   +1 more source

The role of additives in the film formation kinetics of active layers in organic solar cells: From in situ characterization to mechanistic elucidation

FlexMat, EarlyView.
This review highlights the critical regulatory role of liquid and solid additives in the film formation kinetics of organic solar cells (OSCs) active layer. Real‐time in situ characterization technology techniques (in situ UV‐Vis, PL, GIWAXS, and GISAXS) are utilized to monitor the dynamic solution‐to‐solid transformation, revealing how additives ...
Yuanwei Zhao, Weichao Zhang, Tianyu Zhang, Jigui Tang, Yali Chen, Zheling Zhang, Dongjie Wang, Jian Zhang, Huiqiong Zhou   +8 more
wiley   +1 more source

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency [PDF]

, 2009
OBJECTIVE. Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are ...
Mazen, I., Achermann, J.C., Rossi, R., Akkurt, I., Köhler, B., Cetindag, C., Biebermann, H., Grüters, A., Lin, L., Hiort, O.   +9 more
core  

Single Versus Double Screw Extrusion: Impact on Mechanical Performance and Crack Resistance for a Virgin, Recycled, and Blended Polypropylene

Polymer Engineering &Science, EarlyView.
Schematic overview of the study approach and key findings. ABSTRACT To evaluate the influence of extrusion on material performance, three processing methods, single extrusion (1x Ex), double extrusion (2x Ex), and double screw compounding (C), were investigated for virgin polypropylene (vPP), recycled PP (rPP), and a blend containing 10% rPP (rPP10 ...
J. Pötzlbauer, J. Geier, B. Haar, S. Schuschnigg, M. Messiha, T. Koch, C. Maurer, G. Pinter, F. Arbeiter   +8 more
wiley   +1 more source

Reinforcement Learning for Jump‐Diffusions, With Financial Applications

Mathematical Finance, EarlyView.
ABSTRACT We study continuous‐time reinforcement learning (RL) for stochastic control in which system dynamics are governed by jump‐diffusion processes. We formulate an entropy‐regularized exploratory control problem with stochastic policies to capture the exploration–exploitation balance essential for RL.
Xuefeng Gao, Lingfei Li, Xun Yu Zhou
wiley   +1 more source

Gender Identity and Assignment Recommendations in Disorders of Sex Development Patients: 20 Years’ Experience and Challenges

JCRPE, 2020
Objective:Gender assignment in infants and children with disorders of sex development (DSD) is a stressful situation for both patient/families and medical professionals.Methods:The purpose of this study was to investigate the results of gender assignment
Fatih Gürbüz, Murat Alkan, Gonca Çelik, Atıl Bişgin, Necmi Çekin, İlker Ünal, Ali Kemal Topaloğlu, Ünal Zorludemir, Ayşe Avcı, Bilgin Yüksel   +9 more
doaj   +1 more source

Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic father

Endocrinology, Diabetes & Metabolism Case Reports, 2023
Pathogenic variants in the nuclear receptor subfamily 5 group A member 1 gene (NR5A1), which encodes steroidogenic factor 1 (SF1), result in 46,XY and 46,XX differences of sex development (DSD). In 46,XY individuals with a pathogenic variant in the NR5A1
Rahim Karim Damji, Mohamed Zahir Alimohamed, Hedi L Claahsen-van der Grinten, Dineke Westra, Ben Hamel   +4 more
doaj   +1 more source

Monolithic Framework to Simulate Fluid‐Structure Interaction Problems Using Geometric Volume‐of‐Fluid Method

International Journal for Numerical Methods in Fluids, Volume 98, Issue 10, Page 1105-1125, October 2026.
A three‐dimensional fluid‐structure interaction (FSI) framework is developed using the geometric volume‐of‐fluid (VOF) interface capturing method and applied to assess largescale turbulent FSI interactions. The monolithic FSI framework is extensively validated, and despite the discontinuities across the interface, the FSI framework delivers stable and ...
Soham Prajapati, Ali Fakhreddine, Krishnan Mahesh   +2 more
wiley   +1 more source