Genetic polymorphisms of PGF and TNFAIP2 genes related to cervical cancer risk among Uygur females from China [0.03%]
中国维吾尔族女性PGF和TNFAIP2基因多态性与宫颈癌发病风险相关性研究
Zumurelaiti Ainiwaer,Reyilanmu Maisaidi,Jing Liu et al.
Zumurelaiti Ainiwaer et al.
Background: PGF and TNFAIP2 are important angiogenic factors, which were abnormal expression in cervical cancer (CC). However, there is currently no report investigating the relationship of PGF and TNFAIP2 gene polymorphi...
Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report [0.03%]
由CLCN1基因剪接位点变异引起的隐性先天性肌强直症一例报告
Peter Sparber,Margarita Sharova,Alexandra Filatova et al.
Peter Sparber et al.
Background: Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction. Myotonia congenita can be inherited in a dominant (Thomsen dise...
Medical genetics studies at the SBB-2019 and MGNGS-2019 conferences [0.03%]
SBB-2019和MGNGS-2019会议上的医学遗传学研究进展
Ancha V Baranova,Elena Yu Leberfarb,Georgy S Lebedev et al.
Ancha V Baranova et al.
Understanding the molecular association between hyperkalemia and lung squamous cell carcinomas [0.03%]
高钾血症和肺鳞状细胞癌分子关联的了解
Xianping Meng,Hongyan Lu,Xia Jiang et al.
Xianping Meng et al.
Background: Previous studies indicated a strong association between hyperkalemia and lung squamous cell carcinomas (LSCC). However, the underlying mechanism is not fully understood so far. ...
Unannotated single nucleotide polymorphisms in the TATA box of erythropoiesis genes show in vitro positive involvements in cognitive and mental disorders [0.03%]
未注释的单核苷酸多态性在红细胞生成基因的TATA框中显示出对认知和精神障碍的体外正向影响
Mikhail Ponomarenko,Ekaterina Sharypova,Irina Drachkova et al.
Mikhail Ponomarenko et al.
Background: Hemoglobin is a tetramer consisting of two α-chains and two β-chains of globin. Hereditary aberrations in the synthesis of one of the globin chains are at the root of thalassemia, one of the most prevalent m...
Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report [0.03%]
在妊娠期间通过对受累先证者进行全外显子测序来诊断Norrie病的产前诊断一例报告
Andrey V Marakhonov,Irina A Mishina,Vitaly V Kadyshev et al.
Andrey V Marakhonov et al.
Background: Hereditary ophthalmic pathology is a genetically heterogeneous group of diseases that occur either as an isolated eye disorder or as a symptom of hereditary syndromes (chromosomal or monogenic). Thus, a diagno...
Evgeniya G Poltavskaya,Olga Yu Fedorenko,Natalya M Vyalova et al.
Evgeniya G Poltavskaya et al.
Background: Schizophrenia is a severe highly heritable mental disorder. The clinical heterogeneity of schizophrenia is expressed in the difference in the leading symptoms and course of the disease. Identifying the genetic...
Deep vein thrombosis inhibitor may play a therapeutic role in post-stroke patients [0.03%]
深静脉血栓形成的抑制剂可能在中风后患者的治疗中发挥作用
Xixi Xiang,Di Yuan,Peiyan Kong et al.
Xixi Xiang et al.
Background: Deep vein thrombosis (DVT) is associated with stroke. Here, we hypothesize that genes associated with DVT may also play roles in the development of stroke. ...
A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report [0.03%]
FBN1基因的无意义变异导致中国一个家庭中的常染色体显性马凡氏综合症：病例报告
Yuping Niu,Sexin Huang,Zeyu Wang et al.
Yuping Niu et al.
Background: Marfan syndrome (MFS) is a common autosomal dominant inherited disease, and the occurrence rate is around 0.1-0.2‰. The causative variant of FNB1 gene accounts for approximately 70-80% of all MFS cases. In th...
Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report [0.03%]
伴有智力障碍的癫痫女性患者中发现两个新的PCDH19基因突变：病例报道
Anastasiya Aleksandrovna Kozina,Elena Grigorievna Okuneva,Natalia Vladimirovna Baryshnikova et al.
Anastasiya Aleksandrovna Kozina et al.
Background: Epilepsy with intellectual disability limited to females (Epileptic encephalopathy, early infantile, 9; EIEE9) is a rare early infantile epileptic encephalopathy characterized by an unusual X-linked inheritanc...