Search Results - "Zang, Yucui"
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Mutations in ASH1L confer susceptibility to Tourette syndrome
Published in Molecular psychiatry (01-02-2020)“…Tourette syndrome (TS) is a childhood-onset neuropsychiatric disorder characterized by repetitive motor movements and vocal tics. The clinical manifestations…”
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Association between polymorphisms rs2228001 and rs2228000 in XPC and genetic susceptibility to preeclampsia: a case control study
Published in BMC pregnancy and childbirth (22-11-2021)“…Background Xeroderma pigmentosum complementation group C (XPC) is a DNA damage recognition protein that plays an important role in nucleotide excision repair…”
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DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland- in-situ With Congenital Hypothyroidism
Published in Frontiers in endocrinology (Lausanne) (21-04-2020)“…Thyroid dysgenesis (TD), which is caused by gland developmental abnormalities, is the most common cause of congenital hypothyroidism (CH). In addition,…”
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Identification of Two Missense Mutations in DUOX1 (p.R1307Q) and DUOXA1 (p.R56W) That Can Cause Congenital Hypothyroidism Through Impairing H2O2 Generation
Published in Frontiers in endocrinology (Lausanne) (02-08-2019)“…Context: The DUOX/DUOXA systems play a key role in H 2 O 2 generation in thyroid cells, which is required for iodine organification and thyroid hormone…”
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Spontaneous hyperactivity in Ash1l mutant mice, a new model for Tourette syndrome
Published in Molecular psychiatry (01-02-2020)Get full text
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Association of NLRP3 and IL-4 VNTR polymorphisms and genetic susceptibility to preeclampsia: A case-control study
Published in Pregnancy hypertension (01-09-2024)“…•The NLRP3 VNTR and IL-4 VNTR polymorphisms were significantly correlated with the susceptibility to PE.•The first to report the NLRP3 and IL-4 VNTR…”
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Novel THRB mutation analysis in congenital hypothyroidism with thyroid dysgenesis
Published in Journal of cellular biochemistry (01-11-2018)“…Thyroid dysgenesis (TD) accounts for most cases of congenital hypothyroidism. Although mutations in thyroid hormone receptor β (THRB) have been identified in…”
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A colorimetric method for H1N1 DNA detection using rolling circle amplification
Published in Analyst (London) (21-06-2013)“…A highly sensitive and specific colorimetry-based rolling circle amplification (RCA) assay has been successfully developed as a method for the effective…”
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Genetic testing of PAX8 mutations associated with thyroid dysgenesis in Chinese congenital hypothyroidism patients
Published in Endokrynologia Polska (01-01-2020)“…Thyroid dysgenesis (TD) is the main cause of congenital hypothyroidism (CH), affecting nearly 1 in 2000-3000 newborns worldwide, as the most common neonatal…”
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Identification of Two Missense Mutations in DUOX1 (p.R1307Q) and DUOXA1 (p.R56W) That Can Cause Congenital Hypothyroidism Through Impairing H 2 O 2 Generation
Published in Frontiers in endocrinology (Lausanne) (2019)“…The DUOX/DUOXA systems play a key role in H O generation in thyroid cells, which is required for iodine organification and thyroid hormone synthesis…”
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