Results 81 to 90 of about 167,426,214 (275)

Utility of a commercially available blood steroid profile in endocrine practice

Indian Journal of Endocrinology and Metabolism, 2019
Background: A blood steroid profile has recently become available on commercial basis in India. In this study, we report our initial experience with the use of steroid profile in the evaluation of disorders of sex development (DSD) and suspected cases of
Vijaya Sarathi, Sridevi Atluri, T V S. Pradeep, Sindhu S Rallapalli, Chintala V Rakesh, Tirupati Sunanda, K Dileep Kumar   +6 more
doaj   +1 more source

The C‐terminal region of KIF26B is indispensable for nephron progenitor condensation and kidney formation in mice

FEBS Open Bio, EarlyView.
KIF26B plays an important role in kidney development. We engineered mice lacking the C‐terminal region of KIF26B and found severe kidney defects, including bilateral renal agenesis, similar to full Kif26b knockout mice. The mutation disrupted nephron progenitor condensation and reduced Gdnf‐Wnt11 signaling, showing that the KIF26B C‐terminal region is ...
Yuta Yamamura, Kengo Furuichi, Hiromitsu Akamatsu, Naoki Yamamoto, Sako Keisuke, Akihiko Koshino, Taichiro Minami, Megumi Oshima, Akinori Hara, Norihiko Sakai, Miho Shimizu, Kenta Takahashi, Minako Yamamura, Shin‐ichi Horike, Takiko Daikoku, Kenichi Harada, Yohei Shinmyo, Hiroshi Kawasaki, Takashi Wada, Yasunori Iwata   +19 more
wiley   +1 more source

Differences in sex development among individuals with a female phenotype and an absent uterus: Diagnostic approach

Journal of International Medical Research
Objective To describe individuals with differences in sex development presenting with a female phenotype and an absent uterus and identify specific diagnostic characteristics that improve diagnostic accuracy and optimize patient care.
Ana Jibladze, Elene Asanidze, Alla Vash-Margita, Jenaro Kristesashvili   +3 more
doaj   +1 more source

Clinical features and genetic analysis of androgen receptor gene variants in 30 prepubertal patients with androgen insensitivity syndrome

Asian Journal of Andrology
Androgen insensitivity syndrome (AIS; Online Mendelian Inheritance in Man [OMIM; #300068]) is an X-linked recessive disorder caused by pathogenic variants in the androgen receptor (AR) gene located in the Xq11-q13 region.
Jia-Nan Li, Jiang Wei, Jing Hui, Zi-Xuan Wang, Ji-Yun Yang   +4 more
doaj   +1 more source

Cytogenetic Analyses in Ewes with Congenital Abnormalities of the Genital Apparatus

Animals, 2019
The Disorders of Sex Development (DSDs) are congenital conditions characterized by inconsistency among chromosomal, gonadal, and anatomical sex development. The aim of this research is to report the clinical and cytogenetic findings of four DSD cases and
Sara Albarella, Emanuele D’Anza, Giacomo Galdiero, Luigi Esposito, Davide De Biase, Orlando Paciello, Francesca Ciotola, Vincenzo Peretti   +7 more
doaj   +1 more source

Impact of Disorders of Sex Development on Egyptian Parents and Factors Affecting Them

Journal of High Institute of Public Health, 2022
Background: Disorders of sex development (DSD) are a category of congenital diseases characterized by aberrant internal and external genital structure development.
Marwa Abd Elmaksoud, Hala Ali, Bayoumi Gharib, Sally S. Othman, Shaymaa Elsayed   +4 more
doaj   +1 more source

Cell surface CD11c as a neutrophil aging marker molecule

FEBS Open Bio, EarlyView.
Cell surface CD11chi neutrophils were more aged and had better phagocytic function than CD11c−/lo neutrophils. Transcriptomic analysis of CD11chi neutrophils and CD11c−/lo neutrophils in pediatric population showed that the most difference was seen in infants.
Sophia Koutsogiannaki, Fahd Alhamdan, Erik Malm, Marie Bermudez, Samuel Y. Kim, Koichi Yuki   +5 more
wiley   +1 more source

Unclassified complex urogenital anomaly in a 3-year-old girl: Diagnostic and surgical challenges

Urology Case Reports
Complex urogenital malformations are rare congenital anomalies that often escape existing classification systems due to marked anatomical variability. We describe a previously unreported urogenital malformation.A 3-year-old girl presented with ambiguous ...
Ilaria Manghi, Tommaso Gargano, Francesca Ruspi, Michela Maffi, Michele Libri, Marcello Domini   +5 more
doaj   +1 more source

MARK4 enhances stress granule formation under oxidative stress and increases tau accumulation

FEBS Open Bio, EarlyView.
MARK4 (red dots) localizes to stress granules (orange dots) and promotes their formation under oxidative stress by modulating TIA1 (blue dots). MARK4 and TIA1 synergistically increase tau (purple) accumulation, and the reduction of the TIA1 ortholog suppresses neurodegeneration in a fly model.
Sho Nakajima, Kotone Watanabe, Grigorii Sultanakhmetov, Aoi Fukuchi, Keiya Ito, Sawako Shimizu, Taro Saito, Akiko Asada, Kanae Ando   +8 more
wiley   +1 more source

Object relations in personality disorder: development of the "Problematic Object Representation Scales" (PORS) for the AAI. [PDF]

, 2007
Over the past years, there has been an increasing interest in assessing object relations and studying the relationship between problematic object representations and different types of psychological disturbance.
Ribiero, L., Ribeiro, Luisa
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