Copy number variation is highly correlated with differential gene expression: a pan-cancer study
Cancer is a heterogeneous disease with many genetic variations. Lines of evidence have shown copy number variations (CNVs) of certain genes are involved in development and progression of many cancers through t... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 9, 2019 Category: Genetics & Stem Cells Authors: Xin Shao, Ning Lv, Jie Liao, Jinbo Long, Rui Xue, Ni Ai, Donghang Xu and Xiaohui Fan Tags: Research article Source Type: research
Screening and computational analysis of colorectal associated non-synonymous polymorphism in CTNNB1 gene in Pakistani population
Colorectal cancer (CRC) is categorized by alteration of vital pathways such as β-catenin (CTNNB1) mutations, WNT signaling activation, tumor protein 53 (TP53) inactivation, BRAF, Adenomatous polyposis coli (APC) ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 7, 2019 Category: Genetics & Stem Cells Authors: Suhail Razak, Nousheen Bibi, Javid Ahmad Dar, Tayyaba Afsar, Ali Almajwal, Zahida Parveen and Sarwat Jahan Tags: Research article Source Type: research
A case report and mechanism analysis of a normal phenotype mosaic 47, XXY complicated by paternal iUPD (9) who had a normal PGD result
Uniparental disomy (UPD) refers to the situation in which two copies of homologous chromosomes or part of a chromosome originate from the one parent and no copy is supplied by the other parent. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 7, 2019 Category: Genetics & Stem Cells Authors: Dan Li, Yun Wang, Nan Zhao, Liang Chang, Ping Liu, Chan Tian and Jie Qiao Tags: Case report Source Type: research
Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling
Proximal symphalangism is a rare disease with multiple phenotypes including reduced proximal interphalangeal joint space, symphalangism of the 4th and/or 5th finger, as well as hearing loss. At present, at lea... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 6, 2019 Category: Genetics & Stem Cells Authors: Cong Ma, Lv Liu, Fang-Na Wang, Hai-Shen Tian, Yan Luo, Rong Yu, Liang-Liang Fan and Ya-Li Li Tags: Case report Source Type: research
Association of high sensitive C-reactive protein with coronary heart disease: a Mendelian randomization study
This study investigated the causal effect of hs-CRP on CHD risk using Mendelian Randomizatio... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - November 6, 2019 Category: Genetics & Stem Cells Authors: Qian Zhuang, Chong Shen, Yanchun Chen, Xianghai Zhao, Pengfei Wei, Junxiang Sun, Yanni Ji, Xiaotian Chen and Song Yang Tags: Research article Source Type: research
Associations of BAFF rs2893321 polymorphisms with myasthenia gravis susceptibility
Myasthenia gravis (MG) is an autoimmune diseases characterized by fatigue and weakness of skeletal muscles. B-lymphocyte-activating factor (BAFF), an essential factor for B cell differentiation and development, i... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 30, 2019 Category: Genetics & Stem Cells Authors: Hui Deng, Jianjian Wang, Xiaotong Kong, Huixue Zhang, Tianfeng Wang, Wenqi Tian, Tingting Yi and Lihua Wang Tags: Research article Source Type: research
Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
Limb-girdle muscular dystrophies (LGMDs) are large group of heterogeneous genetic diseases, having a hallmark feature of muscle weakness. Pathogenic mutations in the gene encoding the giant skeletal muscle pro... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 29, 2019 Category: Genetics & Stem Cells Authors: Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadhel and Xue Zhang Tags: Research article Source Type: research
Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series
Mitochondrial DNA depletion syndromes (MDS) are clinically and phenotypically heterogeneous disorders resulting from nuclear gene mutations. The affected individuals represent a notable reduction in mitochondr... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 29, 2019 Category: Genetics & Stem Cells Authors: Ghazale Mahjoub, Parham Habibzadeh, Hassan Dastsooz, Malihe Mirzaei, Arghavan Kavosi, Laila Jamali, Haniyeh Javanmardi, Pegah Katibeh, Mohammad Ali Faghihi and Seyed Alireza Dastgheib Tags: Case report Source Type: research
A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report
Treatment of steroid-resistant nephrotic syndrome (SRNS) remains a challenge for paediatricians. SRNS accounts for 10~20% of childhood cases of nephrotic syndrome (NS). Individuals with SRNS overwhelmingly pro... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 28, 2019 Category: Genetics & Stem Cells Authors: Xia Wu, Wenhong Wang, Yan Liu, Wenyu Chen and Linsheng Zhao Tags: Case report Source Type: research
Decoding of novel missense TSC2 gene variants using in-silico methods
Mutations in TSC1 or TSC2 gene cause tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by the formation of non-malignant hamartomas in multiple vital organs. TSC1 and TSC2 gene produc... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 26, 2019 Category: Genetics & Stem Cells Authors: Shruthi Sudarshan, Manoj Kumar, Punit Kaur, Atin Kumar, Sethuraman G., Savita Sapra, Sheffali Gulati, Neerja Gupta, Madhulika Kabra and Madhumita Roy Chowdhury Tags: Research article Source Type: research
MTHFR and F5 genetic variations have association with preeclampsia in Pakistani patients: a case control study
To study the role of single nucleotide variants (SNVs) of genes related to preeclampsia in Pakistani pregnant women. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 23, 2019 Category: Genetics & Stem Cells Authors: Feriha Fatima Khidri, Yar Muhammad Waryah, Faiza Kamran Ali, Hina Shaikh, Ikram Din Ujjan and Ali Muhammad Waryah Tags: Research article Source Type: research
MMP-8 C-799 T, Lys460Thr, and Lys87Glu variants are not related to risk of cancer
Several studies have focused on the relationship between MMP-8 variants and cancer risk, but they have been unsuccessful in drawing reliable conclusions. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 21, 2019 Category: Genetics & Stem Cells Authors: Li-Feng Zhang, Li-Jie Zhu, Wei Zhang, Wei Yuan, Ning-Hong Song, Li Zuo, Yuan-Yuan Mi, Zeng-Jun Wang and Wei Zhang Tags: Research article Source Type: research
Pooling analysis regarding the impact of human vitamin D receptor variants on the odds of psoriasis
The study aims at scientifically investigating the genetic effect of four polymorphisms (rs7975232, rs1544410, rs2228570, and rs731236) within the human Vitamin D Receptor (VDR) gene on the odds of psoriasis thro... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 17, 2019 Category: Genetics & Stem Cells Authors: Juan Li, Li Sun, Jinghui Sun and Min Yan Tags: Research article Source Type: research
Uridine diphosphate glucuronosyl transferase 1A (UGT1A1) promoter polymorphism in young patients with sickle cell anaemia: report of the first cohort study from Nigeria
(TA) n repeat sequence (rs8175347) of UGT1A1 gene promoter polymorphism is associated with serum bilirubin levels and gallstones among different sickle cell anaemia (SCA) populations. There are no data on UGT1A1 ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 16, 2019 Category: Genetics & Stem Cells Authors: Oladele Simeon Olatunya, Dulcineia Martins Albuquerque, Ganiyu Olusola Akanbi, Olufunso Simisola Aduayi, Adekunle Bamidele Taiwo, Opeyemi Ayodeji Faboya, Tolorunju Segun Kayode, Daniela Pinheiro Leonardo, Adekunle Adekile and Fernando Ferreira Costa Tags: Research article Source Type: research
IKZF1 genetic variants rs4132601 and rs11978267 and acute lymphoblastic leukemia risk in Tunisian children: a case-control study
We examined whether the common IKZF1 polymorphisms rs4132601 T/G and rs111978267 A/G are associated with ALL ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - October 11, 2019 Category: Genetics & Stem Cells Authors: Sana Mahjoub, Vera Chayeb, Hedia Zitouni, Rabeb M. Ghali, Haifa Regaieg, Wassim Y. Almawi and Touhami Mahjoub Tags: Research article Source Type: research
