Adv Neurobiol
New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder.
Al-Dewik N, Alsharshani M
Autism spectrum disorder (ASD) is a highly heritable, heterogeneous, and complex pervasive neurodevelopmental disorder (PND) characterized by distinct ...
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Source: PubMed
Stem Cell Reports 2020 Jan 29
Ascorbate and Iron Are Required for the Specification and Long-Term Self-Renewal of Human Skeletal Mesenchymal Stromal Cells.
Liu TM, Yildirim ED, Li P, Fang HT, Denslin V, Kumar V, Loh YH, Lee EH, Cool SM, Teh BT, Hui JH, Lim B, Shyh-Chang N
The effects of ascorbate on adult cell fate specification remain largely unknown. Using our stepwise and chemically defined system to derive lateral m ...
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Source: PubMed
Am. J. Hum. Genet. 2020 Jan 30
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
Wagner M, Skorobogatko Y, Pode-Shakked B, Powell CM, Alhaddad B, Seibt A, Barel O, Heimer G, Hoffmann C, Demmer LA, Perilla-Young Y, Remke M, Wieczorek D, Navaratnarajah T, Lichtner P, Klee D, Shamseldin HE, Al Mutairi F, Mayatepek E, Strom T, Meitinger T, Alkuraya FS, Anikster Y, Saltiel AR, Distelmaier F
Ral (Ras-like) GTPases play an important role in the control of cell migration and have been implicated in Ras-mediated tumorigenicity. Recently, vari ...
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Source: PubMed
EMBO Mol Med 2020 Jan 31
Inhibiting MARSs reduces hyperhomocysteinemia-associated neural tube and congenital heart defects.
Mei X, Qi D, Zhang T, Zhao Y, Jin L, Hou J, Wang J, Lin Y, Xue Y, Zhu P, Liu Z, Huang L, Nie J, Si W, Ma J, Ye J, Finnell RH, Saiyin H, Wang H, Zhao J, Zhao S, Xu W
Hyperhomocysteinemia is a common metabolic disorder that imposes major adverse health consequences. Reducing homocysteine levels, however, is not alwa ...
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Source: PubMed
Eat Weight Disord 2020 Jan 30
Metabolically healthy obesity is associated with longitudinal changes in high-density lipoprotein cholesterol in Chinese adults.
Yang Y, Wan YP, Fan ZP, Gao X, Jiang AL, Xu RY
Whether metabolically healthy obesity (MHO) is associated with longitudinal changes in high-density lipoprotein cholesterol (HDL-C) remains unclear. ...
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Source: PubMed
