Results 31 to 40 of about 43,260 (208)

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
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

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

A conserved function of Human DLC3 and Drosophila Cv-c in testis development

eLife, 2022
The identification of genes affecting gonad development is essential to understand the mechanisms causing Variations/Differences in Sex Development (DSD). Recently, a DLC3 mutation was associated with male gonadal dysgenesis in 46,XY DSD patients.
Sol Sotillos, Isabel von der Decken, Ivan Domenech Mercadé, Sriraksha Srinivasan, Dmytro Sirokha, Ludmila Livshits, Stefano Vanni, Serge Nef, Anna Biason-Lauber, Daniel Rodríguez Gutiérrez, James Castelli-Gair Hombría   +10 more
doaj   +1 more source

Advent of NK3R Antagonists for the Treatment of Menopausal Hot Flushes: A Narrative Review

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT The menopause transition is marked by symptoms predominantly attributed to declining oestrogen levels. Approximately 80% of women experience associated symptoms, and 25% experience severe symptoms. The commonest are vasomotor symptoms (VMS), collectively referring to hot flushes and/or night sweats.
Aaran H. Patel, Aureliane Pierret, Edouard G. Mills, Alexander N. Comninos, Waljit S. Dhillo, Ali Abbara   +5 more
wiley   +1 more source

A 45,X/46,XY Male with Orchidopexy Diagnosed with Mixed Germ Cell Tumor After 21-year Follow-up

Urology Case Reports, 2017
A case of a 45,X/46,XY boy with gonadal dysgenesis is presented. The patient showed hypospadias and right undescended testis. He underwent underwent repair surgery for hypospadias, right orchidopexy, and bilateral testicular biopsy.
Masashi Kubota, Naoki Terada, Katsuhiro Ito, Hideaki Takada, Toshihiro Magaribuchi, Atsuro Sawada, Shusuke Akamatsu, Hiromitsu Negoro, Ryoichi Saito, Takashi Kobayashi, Toshinari Yamasaki, Takahiro Inoue, Osamu Ogawa   +12 more
doaj   +1 more source

Mullerian remnants presenting as a pelvic cyst in a young adult with 45X0/46XY mixed gonadal dysgenesis

Urology Annals, 2021
A 22-year-old known case of 45XO/46XY mixed gonadal dysgenesis, reared as a male, presented with complaints of suprapubic and left iliac fossa pain for the past 1 month.
Samson Ravirajendran, Velmurugan Palaniyandi, Anuj Arora, Venkat Ramanan, Natarajan Kumaresan   +4 more
doaj   +1 more source

Semen quality in patients with testicular cancer is associated with age and with greatly elevated levels of beta human chorionic gonadotropin

Andrology, EarlyView.
Abstract Background Poor semen quality is a well‐known feature in patients with testicular germ cell tumours (GCTs) at the time of diagnosis but the underlying biological reasons are incompletely understood. Objectives This study aimed to identify GCT‐specific clinical factors that are involved with poor semen quality in GCT patients.
Klaus‐Peter Dieckmann, Johanna Hochmuth‐Tisch, Andrea Salzbrunn, Cord Matthies, Kathrein von Kopylow, Marta Godlewska, Christian Wülfing, Uwe Pichlmeier, Armin Soave, Christian Guido Ruf   +9 more
wiley   +1 more source

PURE GONADAL DYSGENESIS: CLINICAL CASE AND REVIEW OF THE LITERATURE

, 2021
XX or XY pure gonadal dysgenesis (PGD) is defined by premature destruction of the fetal gonads which reduce to an undifferentiated stroma with absence of germ line and endocrine secretion.
Rana Watfeh , Adam Benani , Maria Hijji , M. Youssfi and S. Bargach
core   +1 more source

Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature

Indian Journal of Endocrinology and Metabolism, 2013
The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare. We report a 21-year-old phenotypical female who presented with primary amenorrhea and underdeveloped secondary sexual characteristics.
Viral N Shah, Parth J Ganatra, Rajni Parikh, Panna Kamdar, Seema Baxi, Nishit Shah   +5 more
doaj   +1 more source