Results 31 to 40 of about 1,277,264 (308)

Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia

BMC Medical Genetics, 2020
Background Pathogenic SLC6A1 variants have been reported in patients with myoclonic-atonic epilepsy (MAE). NOTCH1, encoding a member of the Notch family of proteins, is known to be associated with aortic valve disease.
Haiming Yuan, Qingming Wang, Yufeng Li, Shuangxi Cheng, Jianxin Liu, Yanhui Liu   +5 more
doaj   +1 more source

Update from a cohort study for birth defects in Hunan Province, China, 2010–2020

Scientific Reports, 2023
To define the relationship between sex, residence, maternal age, and a broad range of birth defects by conducting a comprehensive cross-analysis based on up-to-date data.
Xu Zhou, Shenglan Cai, Hua Wang, Junqun Fang, Jie Gao, Haiyan Kuang, Donghua Xie, Jian He, Aihua Wang   +8 more
doaj   +1 more source

Knowledge Summary 22: Reaching Child Brides [PDF]

, 2012
Child marriage affects 10 million girls under the age of 18 every year. The negative health and social impact of child marriage include higher rates of maternal and infant mortality, sexually transmitted infection, social separation, and domestic abuse
Partnership for Maternal, Newborn and Child Health
core  

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source

Deciphering transcriptional plasticity in pancreatic ductal adenocarcinoma reveals alterations in sensory neuron innervation

Molecular Oncology, EarlyView.
Pancreatic sensory neurons innervating healthy and PDAC tissue were retrogradely labeled and profiled by single‐cell RNA sequencing. Tumor‐associated innervation showed a dominant neurofilament‐positive subtype, altered mitochondrial gene signatures, and reduced non‐peptidergic neurons.
Elena Genova, Michele Montrone, Uday Rangaswamy, Francesco Diversi, Irene Schiavo, Denise Ferrarini, Roberta Di Florio, Irene Longo, Michele Coscia, Nicola Zamboni, Giorgia Demontis, Lisa Veghini, Vincenzo Corbo, Remo Sanges, Paul Heppenstall   +14 more
wiley   +1 more source

Society for Maternal‐Fetal Medicine Special Statement: Assessing and using maternal mortality data

Pregnancy
The Society for Maternal‐Fetal Medicine (SMFM) strongly supports using maternal mortality data to inform programs and interventions to reduce the high maternal mortality rate in the United States.
Society for Maternal‐Fetal Medicine (SMFM), SMFM Health Policy and Advocacy Committee, SMFM Publications Committee
doaj   +1 more source

What do women want? An analysis of preferences of women, involvement of men, and decision-making in maternal and newborn health care in rural Bangladesh

BMC Pregnancy and Childbirth, 2020
Background To improve the utilization of maternal and newborn health (MNH) care and to improve the quality of care, the World Health Organization (WHO) has strongly recommended men’s involvement in pregnancy, childbirth, and after birth. In this article,
Ahmed Ehsanur Rahman, Janet Perkins, Shumona Sharmin Salam, Shema Mhajabin, Aniqa Tasnim Hossain, Tapas Mazumder, Shams EL Arifeen   +6 more
doaj   +1 more source

A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV

BMC Medical Genomics, 2023
Background Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying degrees of sensorineural hearing loss and accumulated pigmentation in the skin, hair and iris.
Yanan Wang, Yuqiong Chai, Pai Zhang, Weiwei Zang   +3 more
doaj   +1 more source

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source

Multi‐omics and low‐input proteomics profiling reveals dynamic regulation driving pluripotency initiation in early mouse embryos

FEBS Open Bio, EarlyView.
Mouse pre‐implantation development involves a transition from totipotency to pluripotency. Integrating transcriptomics, epigenetic profiling, low‐input proteomics and functional assays, we show that eight‐cell embryos retain residual totipotency features, whereas cytoskeletal remodeling regulated by the ubiquitin‐proteasome system drives progression ...
Wanqiong Li, Xi Xiao, Lingbin Qi, Chanyi Li, Sirui Song, Jiaying Qin, Zhigang Xue, Jinfeng Xue, Huaifang Li   +8 more
wiley   +1 more source