Results 51 to 60 of about 19,150 (213)

G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K‐AKT‐mTOR Signal Axis

Advanced Science, EarlyView.
Schematic illustrating the impact of G3BP1 succinylation at K413 on cardiac function. In the healthy human heart, G3BP1 succinylation maintains homeostatic mTOR signaling. In patients with dilated cardiomyopathy (DCM) and heart failure (HF), G3BP1 de‐succinylation induces RagA expression and disrupts the binding of the TSC1/2 complex, leading to the ...
Yuan Zhang, Cancan Yao, Yan Chen, Ke Cai, Zhouping Lu, Boxuan Wu, Kun Yu, Yan Shi, Jianyuan Zhao, Xiangyu Zhou   +9 more
wiley   +1 more source

Attitudes toward prenatal diagnosis and termination of pregnancy in Saudi Arabia [PDF]

, 2004
INTRODUCTION: Advances in molecular biology will soon make it possible to offer parents prenatal testing for a large number of different genetic disorders.
Alsulaiman, Ayman
core  

Mapping Steroidogenic Perturbations Under Endocrine Disruptor Mixtures Across Demographic Subgroups: Structural and Metabolomic Insights

Advanced Science, EarlyView.
Population‐scale EDC–hormone association mapping among 4255 participants across demographic subgroups identifies phthalate metabolites as the most consistent signals associated with lower testosterone‐related markers in males. Integrative mechanistic validation prioritizes MCPP as a key phthalate metabolite linked to CYP17A1‐centered disruption of ...
Yanling Chen, Lei Huang, Yingtong Jiang, Guohong Zhao, Mengyuan Zhu, Xiulian Lu, Lang Lang, Akinpelumi Oluwatobiloba Esther, Longhao Fan, Yuqi Jiang, Chang Sun, Xiaoling Zhang, Kun Zhou, Xiaoming Ji, Minjian Chen   +14 more
wiley   +1 more source

Prenatal Diagnosis, Fetal Surgery, Recurrence Risk and Differential Diagnosis of Neural Tube Defects

Taiwanese Journal of Obstetrics & Gynecology, 2008
Prenatal screening with α-fetoprotein (AFP) and ultrasonography have allowed the prenatal diagnosis of neural tube defects (NTDs) in current obstetric care, and open spina bifida has been considered a potential candidate for in utero treatment in modern ...
Chih-Ping Chen
doaj   +1 more source

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review

Molecular Genetics & Genomic Medicine, 2023
Background Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X‐linked dominant, lethal male disorder caused by mutations to the NSDHL (NAD(P)H steroid dehydrogenase‐like protein) gene.
Jianlong Zhuang, Qi Luo, Meihua Xie, Yu’e Chen, Yuying Jiang, Shuhong Zeng, Yuanbai Wang, Yingjun Xie, Chunnuan Chen   +8 more
doaj   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Reasons for disclosure of gender to pregnant women during prenatal ultrasonography [PDF]

, 2013
Shazia Shukar-ud-din,1 Fareeha Ubaid,2 Erum Shahani,1 Farah Saleh21Obstetrics and Gynaecology, Unit II, Dow University Hospital, Karachi; 2Obstetrics and Gynaecology, Sindh Government Hospital, Korangi, Karachi, PakistanBackground: The objective of this ...
Ubaid F, Shukar-ud-din S, Saleh F, Shahani E   +3 more
core  

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Necrotizing funisitis and calcification of umbilical vein: case report and review

BMC Pregnancy and Childbirth, 2021
Background Necrotising funisitis (NF) is a rare, chronic stage of funisitis, a severe inflammation of the umbilical cord and an important risk factor for fetal adverse outcomes.
Wendi Wang, Miao Zhang, Liyun Gong, Qingqing Wu   +3 more
doaj   +1 more source

Prenatal Diagnosis of Isolated Hypospadias by Using “Tulip Sign” with Two and Three-Dimensional Ultrasonography [PDF]

, 2016
Hypospadias is an anomaly of the male urogenital tract which occurs as a result of deficient closure of the urethral groove. Hypospadias is the most commonly seen urogenital anomaly in male neonates, but it is rarely diagnosed during prenatal period ...
Sebahat Atar Gürel
core   +1 more source