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BMC Medical Genetics
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#1Carla CaffarelliH-Index: 16
#2Stefano GonnelliH-Index: 33
Last.Ranuccio NutiH-Index: 41
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#1Gan Xiao-ling (CQMU: Chongqing Medical University)
#2Liu Shuaibin (CQMU: Chongqing Medical University)
Last.Liang Kailu (CQMU: Chongqing Medical University)
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To investigated the role of miR-19b-3p in regulating bone marrow mesenchymal stem cell (BMSC) proliferation and osteoblast differentiation. The expression of miR-19b-3p and lncRNA H19 were measured in postmenopausal osteoporosis patients and BMP-22 induced BMSCs using qRT-PCR. MiR-19b-3p mimic or inhibitor was transfected into BMP-2 induced BMSCs. Cell proliferation was measured by BrdU method. Protein expression of RUNX2 and COL1A1 were measured by western blot. PcDNA3.1-lncRNA H19 with or with...
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#1Alice Poisson (CNRS: Centre national de la recherche scientifique)H-Index: 8
#2Alice PoissonH-Index: 4
Last.Lesca G
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The role of deleterious copy number variations in schizophrenia is well established while data regarding pathogenic variations remain scarce. We report for the first time a case of schizophrenia in a child with a pathogenic mutation of the chromodomain helicase DNA binding protein 2 (CHD2) gene. The proband was the second child of unrelated parents. Anxiety and sleep disorders appeared at the age of 10 months. He presented febrile seizures and, at the age of 8, two generalized tonic-clonic seizu...
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#1Jun Deng (HUST: Huazhong University of Science and Technology)H-Index: 7
#2Dan Li (HUST: Huazhong University of Science and Technology)
Last.Yu Hu (HUST: Huazhong University of Science and Technology)H-Index: 19
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Coagulation factor XIII (FXIII) plays an essential role in maintaining hemostasis by crosslinking fibrin. Deficiency in FXIII affects clot stability and increases the risk of severe bleeding. Congenital FXIII deficiency is a rare disease. Recently, we identified a Chinese family with FXIII deficiency and investigated the pathogenesis of congenital FXIII deficiency, contributing non-coding pathogenic variants. We performed common tests, coding sequencing by targeted next-generation sequencing (NG...
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#1Mazaher Ramezani (Kermanshah University of Medical Sciences)H-Index: 4
#2Elisa Zavattaro (University of Eastern Piedmont)H-Index: 9
Last.Masoud Sadeghi (Kermanshah University of Medical Sciences)H-Index: 7
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Psoriasis is a multifactorial disorder, impacted by both genetic and environmental factors. Herein, a meta-analysis assessed the association of angiotensin-converting enzyme gene insertion/deletion (ACE I/D) polymorphism and psoriasis susceptibility. A systematic search was used in databases of PubMed/Medline, Scopus, Web of Science, and Cochrane Library up to January 2019 without language restriction. A dichotomous analysis was carried out by RevMan 5.3 using crude odds ratio (OR) and 95% confi...
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#1Lara Pemberton (UCLH: University College Hospital)
#2Robert Barker (Frimley Park Hospital)H-Index: 1
Last.Tessa Homfray (St. George's University)
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Background Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS.
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#1Yinsen Song (Southern Medical University)
#2Zhengping Dong (Binzhou University)
Last.Tianli Fan (Zhengzhou University)
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Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, which showed significant homology to other species such as bovine and mouse. To date, 74 pathogenic or likely pathogenic mutations had been reported. Here we describe a compound heterozygote in LYST gene, which was identified in a 4-year-old female patient. The patient showed skin hypopigmen...
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#1Yaowu Zhu (HUST: Huazhong University of Science and Technology)H-Index: 9
#2Na Shen (HUST: Huazhong University of Science and Technology)H-Index: 12
Last.Yanjun Lu (HUST: Huazhong University of Science and Technology)H-Index: 11
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Thalassemia is a group of inherited hemoglobic disorders resulting from defects in the synthesis of one or more of the hemoglobin chains, which is one of the most prevalent inherited disorders in southern China. Only few studies reported the molecular characterization of α- and β-Thalassemia in Hubei Province in the central of China. A total of 4889 clinically suspected cases of thalassemia were analyzed by Gap-PCR, PCR-based reverse dot blot (RDB). 1706 (33.8%) subjects harbored thalassemia mut...
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#1Jung Ran Choi (Yonsei University)
#2Minhee Jeon (Yonsei University)
Last.Sang Baek Koh (Yonsei University)
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Background Hypertension is one of the risk factors for obesity-related cardiovascular diseases. We investigated whether genetic variations in serotonin 2A receptor (HTR2A) were associated with hypertension.
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#2Philip Rosenstiel (CAU: University of Kiel)H-Index: 73
Last.Michael Forster (CAU: University of Kiel)H-Index: 9
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Liquid biopsies of blood plasma cell free DNA can be used to monitor treatment response and potentially detect mutations that are present in resistant clones in metastatic cancer patients. In our non-interventional liquid biopsy study, a male patient in his fifties diagnosed with stage IV colorectal cancer and polytope liver metastases rapidly progressed after completing chemotherapy and deceased 8 months after diagnosis. Retrospective cell free DNA testing showed that the APC/TP53/KRAS major cl...
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