Results 41 to 50 of about 1,907 (144)

A novel heterozygous intron mutation in SEMA7A causing kallmann syndrome in a female

Gynecological Endocrinology, 2019
Kallmann syndrome (KS) is a rare inherited disorder, which has significantly genotypic and phenotypic heterogeneity. KS is clinically characterized by the combination of hypogonadotropic hypogonadism and hypo/anosmia. At present, there is no relevant report that intron mutation in SEMA7A gene helps induce KS.
Yongting Zhao, Fan Yang, Lili Qiu, Lihong Wang, Hui Che   +4 more
openaire   +2 more sources

NCAPG promotes the malignant progression of endometrioid cancer through LEF1/SEMA7A/PI3K-AKT. [PDF]

J Cancer
NCAPG promotes the progression of endometrial cancer (EC) through PI3K-AKT pathway and has potential as a novel tumor marker. However, the precise regulatory mechanism of NCAPG remains inadequately understood. In this study, we applied Assay for Transposase Accessible Chromatin with high-throughput sequencing (ATAC-Seq) analysis combined with chromatin
Ren Z, Li X, Fu C.
europepmc   +3 more sources

Rare Variants in PFIC‐Related Genes Among Adults With Intrahepatic Cholestasis

Hepatology Research, EarlyView.
ABSTRACT Aim Biallelic pathogenic variants in progressive familial intrahepatic cholestasis (PFIC)‐related genes cause severe pediatric cholestasis. However, the clinical significance of heterozygous variants in adult intrahepatic cholestasis remains unclear.
Shunji Hirose, Kota Tsuruya, Yusuke Mishima, Yoshitaka Arase, Koichi Shiraishi, Vu Thi Hao, Satsuki Ieda, Masayuki Tanaka, Sanae Isaki, Tatehiro Kagawa   +9 more
wiley   +1 more source

Neighboring Gulf Killifish (Fundulus grandis) Populations Differ in Their Plastic and Genetic Responses to Salinity Fluctuations

Ecology and Evolution, Volume 16, Issue 8, August 2026.
Coastal development can alter the salinity fluctuations experienced by tidal creek systems. Understanding how resident organisms, such as the Gulf killifish, respond to these changes is critical, as development along the coastline is projected to triple in the coming decades.
Antrelle D. Clark, Adam Hallaj, Christopher J. Anderson, Moisés A. Bernal   +3 more
wiley   +1 more source

Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism

Frontiers in Genetics, 2021
The role of the prokineticin 2 pathway in human reproduction, olfactory bulb morphogenesis, and gonadotropin-releasing hormone secretion is well established.
Rahma Mkaouar, Rahma Mkaouar, Lamia Cherif Ben Abdallah, Chokri Naouali, Saida Lahbib, Zinet Turki, Sahar Elouej, Yosra Bouyacoub, Maali Somai, Kenneth Mcelreavey, Anu Bashamboo, Sonia Abdelhak, Olfa Messaoud   +12 more
doaj   +1 more source

Epigenetic‐Based Evidence for Distinct Effects of Age, Sex, and Experience in Developmental Critical Period Learning

Developmental Neurobiology, Volume 86, Issue 3, July 2026.
ABSTRACT Although much is known about the encoding of experience, how the brain organizes neural circuits capable of learning and memory formation is largely unstudied. Canonical critical periods emerge from a convergence of maturation‐ and experience‐dependent processes.
Grant W. Kunzelman, Alice Batistuzzo, Sarah E. London   +2 more
wiley   +1 more source

Semaphorin-3A, semaphorin-7A gene single nucleotide polymorphisms, and systemic lupus erythematosus susceptibility

Autoimmunity, 2019
Background: Semaphorin-3A (Sema3A) and Semaphorin-7A (Sema7A) play crucial roles in immune system by inhibiting T cell proliferation and leading to the secretion of pro-inflammatory cytokines.
Li-Na Liu, Peng Wang, Yan-Feng Zou, Zhiwei Xu, Jian Cheng, Yuzhou Zhang, Wenbiao Hu, Hai-Feng Pan   +7 more
doaj   +1 more source

A homozygous R148W mutation in Semaphorin 7A causes progressive familial intrahepatic cholestasis

EMBO Molecular Medicine, 2021
Semaphorin 7A (SEMA7A) is a membrane‐bound protein that involves axon growth and other biological processes. SEMA7A mutations are associated with vertebral fracture and Kallmann syndrome.
Qiong Pan, Gang Luo, Jiaquan Qu, Sheng Chen, Xiaoxun Zhang, Nan Zhao, Jingjing Ding, Hong Yang, Mingqiao Li, Ling Li, Ying Cheng, Xuan Li, Qiaoling Xie, Qiao Li, Xueqian Zhou, Huiling Zou, Shijun Fan, Lingyun Zou, Wei Liu, Guohong Deng, Shi‐Ying Cai, James L Boyer, Jin Chai   +22 more
doaj   +1 more source

Single‐nuclei RNA sequencing reveals heterogeneity within developing GnRH3 neurons in zebrafish

Journal of Neuroendocrinology, Volume 38, Issue 7, July 2026.
Abstract Gonadotropin‐releasing hormone (GnRH) is a central regulator of vertebrate reproduction regulating pituitary gonadotropins. In zebrafish, GnRH3 serves as the hypophysiotropic isoform. Its neurons develop by migrating from the nasal placode to the hypothalamus, forming several distinct subpopulations along the migratory path.
Yalong Sun, Matan Golan, Yonathan Zohar, Xiaoxuan Fan, Nilli Zmora   +4 more
wiley   +1 more source

Semaphorin7A Promotion of Tumoral Growth and Metastasis in Human Oral Cancer by Regulation of G1 Cell Cycle and Matrix Metalloproteases: Possible Contribution to Tumoral Angiogenesis.

PLoS ONE, 2015
BackgroundSemaphorins (SEMAs) consist of a large family of secreted and membrane-anchored proteins that are important in neuronal pathfinding and axon guidance in selected areas of the developing nervous system.
Tomoaki Saito, Atsushi Kasamatsu, Katsunori Ogawara, Isao Miyamoto, Kengo Saito, Manabu Iyoda, Takane Suzuki, Yosuke Endo-Sakamoto, Masashi Shiiba, Hideki Tanzawa, Katsuhiro Uzawa   +10 more
doaj   +1 more source