Genetic polymorphisms of PGF and TNFAIP2 genes related to cervical cancer risk among Uygur females from China
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 polymorphisms... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 27, 2020 Category: Genetics & Stem Cells Authors: Zumurelaiti Ainiwaer, Reyilanmu Maisaidi, Jing Liu, Lili Han, Sulaiya Husaiyin, Jing Lu and Mayinuer Niyazi Tags: Research article Source Type: research
Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report
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... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 22, 2020 Category: Genetics & Stem Cells Authors: Andrey V. Marakhonov, Irina A. Mishina, Vitaly V. Kadyshev, Svetlana A. Repina, Maria F. Shurygina, Olga A. Shchagina, Natalya N. Vasserman, Tatyana A. Vasilyeva, Sergey I. Kutsev and Rena A. Zinchenko Tags: Case Report Source Type: research
Deep vein thrombosis inhibitor may play a therapeutic role in post-stroke patients
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. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 22, 2020 Category: Genetics & Stem Cells Authors: Xixi Xiang, Di Yuan, Peiyan Kong, Ting Chen, Han Yao, Shijia Lin, Xi Zhang and Hongbao Cao Tags: Research Source Type: research
Understanding the molecular association between hyperkalemia and lung squamous cell carcinomas
Previous studies indicated a strong association between hyperkalemia and lung squamous cell carcinomas (LSCC). However, the underlying mechanism is not fully understood so far. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 22, 2020 Category: Genetics & Stem Cells Authors: Xianping Meng, Hongyan Lu, Xia Jiang, Bin Huang, Song Wu, Guiping Yu and Hongbao Cao Tags: Research Source Type: research
Medical genetics studies at the SBB-2019 and MGNGS-2019 conferences
(Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 22, 2020 Category: Genetics & Stem Cells Authors: Ancha V. Baranova, Elena Yu. Leberfarb, Georgy S. Lebedev and Yuriy L. Orlov Tags: Introduction Source Type: research
Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report
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... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 22, 2020 Category: Genetics & Stem Cells Authors: Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali and Mikhail Skoblov Tags: Case Report Source Type: research
Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report
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... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 21, 2020 Category: Genetics & Stem Cells Authors: Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Inessa Dmitrievna Fedonyuk, Alexey Aleksandrovich Kholin, Elena Stepanovna Il ’ina, Anna Yurievna Krasnenko, Ivan Fedorovich Stetsenko, Nikolay Alekseevich Pl Tags: Case report Source Type: research
The association between genetic polymorphisms in ABCG2 and SLC2A9 and urate: an updated systematic review and meta-analysis
Replication studies showed conflicting effects of ABCG2 and SLC2A9 polymorphisms on gout and serum urate. This meta-analysis therefore aimed to pool their effects across studies. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 21, 2020 Category: Genetics & Stem Cells Authors: Thitiya Lukkunaprasit, Sasivimol Rattanasiri, Saowalak Turongkaravee, Naravut Suvannang, Atiporn Ingsathit, John Attia and Ammarin Thakkinstian Tags: Research article Source Type: research
A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report
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 this s... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 21, 2020 Category: Genetics & Stem Cells Authors: Yuping Niu, Sexin Huang, Zeyu Wang, Peiwen Xu, Lijuan Wang, Jie Li, Ming Gao, Xuan Gao and Yuan Gao Tags: Case report Source Type: research
Development of an immunogenomic landscape for the competing endogenous RNAs network of peri-implantitis
Peri-implantitis is an inflammation that occurs around the implant, resulting in varying degrees of inflammatory damage to the soft and hard tissues. The characteristic criterion is the loss of the supporting ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 20, 2020 Category: Genetics & Stem Cells Authors: Yang Li, Jina Zheng, Chanjuan Gong, Kengfu Lan, Yuqing Shen and Xiaojun Ding Tags: Research article Source Type: research
p.Arg72Pro polymorphism of P53 and breast cancer risk: a meta-analysis of case-control studies
The effect of the p.Arg72Pro variant of the P53 gene on the risk of development ofbreast cancer remains variable in populations. However, the use ofstrategies such aspoolingage-matched controls with disease may p... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 19, 2020 Category: Genetics & Stem Cells Authors: Brehima Diakite, Yaya Kassogue, Guimogo Dolo, Jun Wang, Erin Neuschler, Oumar Kassogue, Mamadou L Keita, Cheick B Traore, Bakarou Kamate, Etienne Dembele, Sellama Nadifi, Robert L Murphy, Seydou Doumbia, Lifang Hou and Mamoudou Maiga Tags: Research article Source Type: research
Investigation of INDEL variants in apoptosis: the relevance to gastric cancer
Apoptosis is a type of cell death involved in different pathways inherent to the cell and the evasion from this mechanism has been related to cancer, although this process remains not very well comprehended. G... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 19, 2020 Category: Genetics & Stem Cells Authors: Giovanna Chaves Cavalcante, Milene Raiol de Moraes, Cristina Maria Duarte Valente, Caio Santos Silva, Ant ônio André Conde Modesto, Paula Baraúna de Assumpção, Paulo Pimentel de Assumpção, Sidney Santos and Ândrea Ribeiro-dos-Santos Tags: Research article Source Type: research
Effect of DNMT3A polymorphisms on CpG island hypermethylation in gastric mucosa
CpG methylation of tumor suppressor genes occurs in the early stage of carcinogenesis. Detecting risk factors for aberrant CpG methylation is clinically important for predicting cancer development. DNA methylt... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 16, 2020 Category: Genetics & Stem Cells Authors: Hikaru Takano, Tomoyuki Shibata, Masakatsu Nakamura, Naoko Sakurai, Tasuku Hayashi, Masafumi Ota, Tomoe Nomura-Horita, Ranji Hayashi, Takeo Shimasaki, Toshimi Otsuka, Tomomitsu Tahara and Tomiyasu Arisawa Tags: Research article Source Type: research
Genotype-phenotype correlation of HbH disease in northern Iraq
HbH disease results from dysfunction of three, less commonly two, α-globin genes through various combinations of deletion and non-deletion mutations. Characterization of the mutations and the underlying genoty... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 15, 2020 Category: Genetics & Stem Cells Authors: Rawand P. Shamoon, Ahmed K. Yassin, Ranan K. Polus and Mohamad D. Ali Tags: Research article Source Type: research
Associations of NOD2 polymorphisms with Erysipelotrichaceae in stool of in healthy first degree relatives of Crohn ’s disease subjects
Genetic analyses have identified many variants associated with the risk of inflammatory bowel disease (IBD) development. Among these variants, the ones located within the NOD2 gene have the highest odds ratio of ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 15, 2020 Category: Genetics & Stem Cells Authors: Williams Turpin, Larbi Bedrani, Osvaldo Espin-Garcia, Wei Xu, Mark S. Silverberg, Michelle I. Smith, Juan Antonio Raygoza Garay, Sun-Ho Lee, David S. Guttman, Anne Griffiths, Paul Moayyedi, Remo Panaccione, Hien Huynh, Hillary A. Steinhart, Guy Aumais, Le Tags: Research article Source Type: research
