Results 41 to 50 of about 21,565 (298)

Serotonin and motherhood: From molecules to mood [PDF]

, 2019
Emerging research points to a valuable role of the monoamine neurotransmitter, serotonin, in the display of maternal behaviors and reproduction-associated plasticity in the maternal brain.
Li, Ming, Lonstein, Joseph S., Pawluski, Jodi L.   +2 more
core   +3 more sources

Gaucher disease carrier with gestational thrombocytopenia and anemia: a case report

Journal of Medical Case Reports, 2022
Background Gaucher disease is an autosomal recessive inborn error of metabolism that causes disorders of blood, bone, and central nervous system as well as hepatosplenomegaly.
Takako Sugiura, Arisa Fujiwara, Takasugi Yo, Kana Kashinoura, Chihiro Hayase, Yumiko Taura, Yasuhiro Kawarabayashi, Yasuyuki Hasuo, Shinji Ogawa   +8 more
doaj   +1 more source

Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. [PDF]

, 2017
Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD).
Asan, Chen, Chao, Cheng, Jian, Guo, Fengyu, Hu, Ping, Jiang, Tao, Luo, Chunyu, Ma, Dingyuan, Sun, Yun, Wang, Jian, Wang, Wei, Wang, Yaoshen, Xu, Zhengfeng, Yang, Huanming, Yi, Xin, Yuan, Yuan, Zhang, Jingjing   +16 more
core   +2 more sources

Are single nucleotide polymorphisms rs7903146 and rs12255372 in transcription factor 7-like 2 gene associated with an increased risk for gestational diabetes mellitus in Egyptian women?

Journal of Genetic Engineering and Biotechnology, 2021
Background Genetic variants in the transcription factor 7-like 2 (TCF7L2) gene are related with type 2 diabetes (T2D) and gestational diabetes mellitus (GDM) in various populations, but there are not enough statistics regarding GDM among Egyptian women ...
Taghreed A. Shalabi, Khalda S. Amr, Mai M. Shaker   +2 more
doaj   +1 more source

Perinatal insults and neurodevelopmental disorders may impact Huntington's disease age of diagnosis [PDF]

, 2018
Introduction: The age of diagnosis of Huntington's disease (HD) varies among individuals with the same HTT CAG-repeat expansion size. We investigated whether early-life events, like perinatal insults or neurodevelopmental disorders, influence the ...
Anderson, Dg, Barkhuizen, M, Ferraldeschi, M, Gavilanes, Awd., Kramer, Bw, REGISTRY Investigators of the European Huntington's Disease, Network, Ristori, G, Rodrigues, Fb, Romano, S, Wild, Ej, Winkens, B   +10 more
core   +1 more source

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Relationship between HBV RNA level and pregnancy outcomes among hepatitis B carriers [PDF]

Journal of Medical Biochemistry
Background: This study aims to investigate the relationship between hepatitis B virus (HBV) RNA level and pregnancy outcomes among hepatitis B carriers. Methods: This study collected pregnant women who attended the Affiliated Hospital of Guizhou Medical ...
Zhang Manman, Liao Xin, Wang Heng, Wu Huan, Zhang Baofang   +4 more
doaj   +1 more source

Associations between BMI and the FTO Gene Are Age Dependent: Results from the GINI and LISA Birth Cohort Studies up to Age 6 Years [PDF]

, 2010
Objective: The association between polymorphisms in intron 1 of the fat mass and obesity associated gene (FTO) and obesity-related traits is one of the most robust associations reported for complex traits and is established both in adults and children ...
Bauer, Carl Peter, Berdel, Dietrich, Berg, Andrea von, Borte, Michael, Grallert, Harald, Hebebrand, Johannes, Heinrich, Joachim, Herbarth, Olf, Illig, Thomas, Koletzko, Sibylle, Krämer, Ursula, Rzehak, Peter, Sausenthaler, Stefanie, Schaaf, Beate, Scherag, Andre, Wichmann, Heinz-Erich   +15 more
core   +1 more source

Preventing hereditary cancers caused by opportunistic carcinogens [PDF]

, 2011
Objectives Previous studies reported inherited BRCA1/2 deficits appear to cause cancer by impairing normal protective responses to some carcinogens.
Bernard Friedenson
core   +2 more sources

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source