Results 51 to 60 of about 11,473 (260)

New era of cystic fibrosis: full mutational analysis and personalized therapy [PDF]

, 2017
Despite its apparently simple genetics, cystic fibrosis (CF) is a rather complex genetic disease. A lot of variability in the steps of the path from the cystic fibrosis transmembrane conductance regulator (CFTR ) gene to the clinical manifestations ...
Lucarelli, Marco
core   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Search and identification of spermatozoa and spermatids in the ejaculate of non-obstructive azoospermic patients [PDF]

, 2005
OBJECTIVE: To search and to identify spermatozoa and spermatids, present in the ejaculate of non-obstructive azoospermic patients. MATERIALS AND METHODS: 27 patients, aged between 18 and 48 years, with initial diagnosis compatible with non-obstructive ...
Buttignol, Marcia H.p. [UNIFESP], Cedenho, Agnaldo Pereira [UNIFESP], Fraietta, Renato [UNIFESP], Ortiz, Valdemar [UNIFESP], Spaine, Deborah M. [UNIFESP], Srougi, Miguel [UNIFESP], Timm Jr, Odival [UNIFESP]   +6 more
core   +3 more sources

Obstructive and Non-Obstructive Azoospermia

, 2012
Azoospermia is defined as the complete absence of spermatozoa upon examination of the semen [including capillary tube centrifugation (CTC), strictly confirmed by the absence of spermatozoa issued in urine after ejaculation]. The presence of rare spermatozoa (
PASTORE, ANTONIO LUIGI, PALLESCHI, GIOVANNI, SILVESTRI, LUIGI, LETO, ANTONINO, CARBONE, Antonio   +4 more
openaire   +2 more sources

SPARK: A webserver for comprehensive search and analysis of testicular single‐cell transcriptomic data covering full lifecycle and pathology

iMetaOmics, EarlyView.
SPARK is an interactive platform hosting 189,232 human testicular single‐cell transcriptomes across normal and infertile conditions. It enables automated, code‐free analysis and visualization, providing a powerful resource to explore cellular and molecular dynamics in male reproduction and infertility.
Lina Cui, Xiaojian Lu, Hui Cai, Ziyan Zhuang, Yifei Guo, Qiaoling Jiang, Zhe Zhang, Hui Jiang, Xiaoyan Wang, Jingtao Guo   +9 more
wiley   +1 more source

Organoids and organ‐on‐a‐chip models for investigating the pathophysiology of the human reproductive system

Interdisciplinary Medicine, EarlyView.
Organoids and organ‐on‐a‐chips are advancing reproductive system research. In the female reproductive system, applications include cancer organoid models, placental chips, and hormone simulation models. For the male reproductive system, research focuses on drug resistance mechanisms, co‐culture platforms, and infertility studies. These refined in vitro
Hongqi Zhang, Shiwen Deng, Fangfang Jin, Jiayao Qu, Xiang Fan, Peng Chen, Xinrong Fan   +6 more
wiley   +1 more source

Testicular histopathology and its association with germ cell numbers, serum concentrations of reproductive hormones, and semen quality

Andrology, EarlyView.
Abstract Background It is well‐established that spermatogenesis, semen quality, and reproductive hormones are interlinked. It is, however, less well‐described how various specific testicular histopathologies are linked to reproductive hormones and semen quality.
Gülizar Saritas, Nina Mørup, Trine H. Johannsen, Anders Juul, Lise Aksglaede, Sofia B. Winge, Kristian Almstrup   +6 more
wiley   +1 more source

Loss of Cx43 in Murine Sertoli Cells Leads to Altered Prepubertal Sertoli Cell Maturation and Impairment of the Mitosis-Meiosis Switch. [PDF]

, 2020
Male factor infertility is a problem in today's society but many underlying causes are still unknown. The generation of a conditional Sertoli cell (SC)-specific connexin 43 (Cx43) knockout mouse line (SCCx43KO) has provided a translational model ...
Behr, Rüdiger, Brehm, Ralph HJ, Distl, Ottmar, Hilbold, Erika, Hoedemaker, Martina, Jung, Klaus, Langeheine, Marion, Metzger, Julia, Rajkovic, Aleksandar, Rode, Kristina, Wilkening, Sandra   +10 more
core   +1 more source

The use of deidentified organ donor testes for research

Andrology, EarlyView.
Abstract Our knowledge of testis development and function mainly comes from research using mammalian model organisms, primarily the mouse. However, there are integral differences between men and other mammalian species regarding cellular composition and expression profiles during fetal and post‐natal testis development and in the mature testis ...
Marina V. Pryzhkova, Marnie W. Skinner, Juliana I. Candelaria, Stephen R. Wellard, Philip W. Jordan   +4 more
wiley   +1 more source

Update on male reproductive endocrinology. [PDF]

, 2018
Practitioners of male reproductive and sexual medicine must have an intimate understanding of the physiology of male reproductive endocrinology, as such a knowledge is the cornerstone on which hormonal treatments are based.
Clavijo, Raul, Hsiao, Wayland
core   +1 more source