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  1. Research article

    Gene expression profiling of idiopathic interstitial pneumonias (IIPs): identification of potential diagnostic markers and therapeutic targets

    Chronic fibrosing idiopathic interstitial pneumonia (IIP) is characterized by alveolar epithelial damage, activation of fibroblast proliferation, and loss of normal pulmonary architecture and function. This st...

    Yasushi Horimasu, Nobuhisa Ishikawa, Masaya Taniwaki, Kakuhiro Yamaguchi, Kosuke Hamai, Hiroshi Iwamoto, Shinichiro Ohshimo, Hironobu Hamada, Noboru Hattori, Morihito Okada, Koji Arihiro, Yuji Ohtsuki and Nobuoki Kohno

    BMC Medical Genetics 2017 18:88

    Published on: 18 August 2017

  2. Case report

    Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports

    Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagn...

    Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei and Mohammad Ali Faghihi

    BMC Medical Genetics 2017 18:87

    Published on: 18 August 2017

  3. Case report

    Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2

    Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease, involving changes in ventricular myocardial tissue and leading to fatal arrhythmias. Mutations in desmosomal genes are th...

    Sami Qadri, Olli Anttonen, Juho Viikilä, Eija H. Seppälä, Samuel Myllykangas, Tero-Pekka Alastalo, Miia Holmström, Tiina Heliö and Juha W. Koskenvuo

    BMC Medical Genetics 2017 18:86

    Published on: 17 August 2017

  4. Research article

    Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer

    Breast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5–10% of cases. The majority of deleterious mutations ar...

    Alsmawal A. Elimam, Mohamed Elmogtba Mouaweia Mohamed Aabdein, Mohamed El-Fatih Moly Eldeen, Hisham N. Altayb, Mohamed Adel Taha, Mohammed N. Nimir, Mohamed D. Dafaalla, Musaab M. Alfaki, Mohamed A. Abdelrahim, Abdelmohaymin A. Abdalla, Musab I. Mohammed, Mona Ellaithi, Muzamil Mahdi Abdel Hamid and Mohamed Ahmed Salih Hassan

    BMC Medical Genetics 2017 18:85

    Published on: 16 August 2017

  5. Research article

    Polymorphism rs189037C > T in the promoter region of the ATM gene may associate with reduced risk of T2DM in older adults in China: a case control study

    Recent evidence indicates that ataxia telangiectasia mutated (ATM) is a cytoplasmic protein that involves in insulin signaling pathways. When ATM gene is mutated, this event appears to contribute to the develo...

    Xiang Ding, Qiukui Hao, Ming Yang, Tie Chen, Shanping Chen, Jirong Yue, Sean X. Leng and Birong Dong

    BMC Medical Genetics 2017 18:84

    Published on: 14 August 2017

  6. Research article

    Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

    Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. We conducted CDC73 mutation analysis in an ...

    Vito Guarnieri, Raewyn M. Seaberg, Catherine Kelly, M. Jean Davidson, Simon Raphael, Andrew Y. Shuen, Filomena Baorda, Orazio Palumbo, Alfredo Scillitani, Geoffrey N. Hendy and David E. C. Cole

    BMC Medical Genetics 2017 18:83

    Published on: 3 August 2017

  7. Research article

    A systematic review of genetic mutations in pulmonary arterial hypertension

    Pulmonary arterial hypertension (PAH) is a group of vascular diseases that produce right ventricular dysfunction, heart failure syndrome, and death. Although the majority of patients appear idiopathic, accumul...

    Gerardo Garcia-Rivas, Carlos Jerjes-Sánchez, David Rodriguez, José Garcia-Pelaez and Victor Trevino

    BMC Medical Genetics 2017 18:82

    Published on: 2 August 2017

  8. Research article

    The susceptibility of FSHB -211G > T and FSHR G-29A, 919A > G, 2039A > G polymorphisms to men infertility: an association study and meta-analysis

    Male infertility is a complex disorder caused by genetic, developmental, endocrine, or environmental factors as well as unknown etiology. Polymorphisms in the follicle stimulating hormone beta subunit (FSHB) (rs1...

    Qiuyue Wu, Jing Zhang, Peiran Zhu, Weijun Jiang, Shuaimei Liu, Mengxia Ni, Mingchao Zhang, Weiwei Li, Qing Zhou, Yingxia Cui and Xinyi Xia

    BMC Medical Genetics 2017 18:81

    Published on: 1 August 2017

  9. Research article

    Interaction between obesity and the Hypoxia Inducible Factor 3 Alpha Subunit rs3826795 polymorphism in relation with plasma alanine aminotransferase

    Hypoxia Inducible Factor 3 Alpha Subunit (HIF3A) DNA has been demonstrated to be associated with obesity in the methylation level, and it also has a Body Mass Index (BMI)-independent a...

    Shuo Wang, Jieyun Song, Yide Yang, Yining Zhang, Nitesh V. Chawla, Jun Ma and Haijun Wang

    BMC Medical Genetics 2017 18:80

    Published on: 28 July 2017

  10. Research article

    Associations between male infertility and ancestry in South Americans: a case control study

    Infertility affects 15% of human couples, with men being responsible in approximately 50% of cases. Moreover, the aetiology of male factor infertility is poorly understood. The majority of male factor infertil...

    Maria Fernanda Skowronek, Tatiana Velazquez, Patricia Mut, Gonzalo Figueiro, Monica Sans, Bernardo Bertoni and Rossana Sapiro

    BMC Medical Genetics 2017 18:78

    Published on: 26 July 2017

  11. Case report

    Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report

    Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and...

    Melanie M. Y. Chan, Angela Barnicoat, Faiz Mumtaz, Michael Aitchison, Lucy Side, Helen Brittain, Alan W. H. Bates and Daniel P. Gale

    BMC Medical Genetics 2017 18:79

    Published on: 26 July 2017

  12. Research article

    Association between 28 single nucleotide polymorphisms and type 2 diabetes mellitus in the Kazakh population: a case-control study

    We evaluated the associations between single nucleotide polymorphisms and different clinical parameters related to type 2 diabetes mellitus (T2DM), obesity risk, and metabolic syndrome (MS) in a Kazakh cohort.

    Nurgul Sikhayeva, Aisha Iskakova, Nuria Saigi-Morgui, Elena Zholdybaeva, Chin-Bin Eap and Erlan Ramanculov

    BMC Medical Genetics 2017 18:76

    Published on: 24 July 2017

  13. Research article

    Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects

    Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of...

    Fernando Cristo, José M. Inácio, Salomé de Almeida, Patrícia Mendes, Duarte Saraiva Martins, José Maio, Rui Anjos and José A. Belo

    BMC Medical Genetics 2017 18:77

    Published on: 24 July 2017

  14. Case report

    Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome

    Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mell...

    Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian and Wenhao Zhou

    BMC Medical Genetics 2017 18:75

    Published on: 19 July 2017

  15. Research article

    Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis

    Sequence variants in the NOS1AP gene have repeatedly been reported to influence QTc, albeit with moderate effect sizes. In the long QT syndrome (LQTS), this may contribute to the substantial QTc variance seen amo...

    Annika Winbo, Eva-Lena Stattin, Ida Maria Westin, Anna Norberg, Johan Persson, Steen M. Jensen and Annika Rydberg

    BMC Medical Genetics 2017 18:74

    Published on: 18 July 2017

  16. Case report

    Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

    Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and he...

    Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo and Mohammad Ali Faghihi

    BMC Medical Genetics 2017 18:73

    Published on: 17 July 2017

  17. Software

    f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies

    The Tohoku Medical Megabank project aims to create a next-generation personalized healthcare system by conducting large-scale genome-cohort studies involving three generations of local residents in the areas a...

    Tomoharu Tokutomi, Akimune Fukushima, Kayono Yamamoto, Yasushi Bansho, Tsuyoshi Hachiya and Atsushi Shimizu

    BMC Medical Genetics 2017 18:71

    Published on: 14 July 2017

  18. Research article

    Signal transducer and activator of transcription 3 (STAT3) promoter methylation and expression in pituitary adenoma

    Pituitary adenoma (PA) is a benign brain tumor that can cause neurological, endocrinological and ophthalmological aberrations. Till now there is a need to identify factors that can influence the tumor invasive...

    Indre Valiulyte, Giedrius Steponaitis, Daina Skiriute, Arimantas Tamasauskas and Paulina Vaitkiene

    BMC Medical Genetics 2017 18:72

    Published on: 14 July 2017

  19. Research article

    Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort

    In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson’s disease (PD). Early detection...

    Zied Landoulsi, Sawssan Benromdhan, Mouna Ben Djebara, Mariem Damak, Hamza Dallali, Rym Kefi, Sonia Abdelhak, Amina Gargouri-Berrechid, Chokri Mhiri and Riadh Gouider

    BMC Medical Genetics 2017 18:70

    Published on: 6 July 2017

  20. Research article

    Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population

    Many osteoarthritis (OA) susceptibility genes have been identified in recent years. Given the overlap in the phenotype of joint inflammation between OA and Kashin-Beck disease (KBD), the aim of this study is t...

    Zhengfu Tai, Lulin Huang, Fang Lu, Yi Shi, Shi Ma, Jing Cheng, He Lin, Xin Liu, Yuanfeng Li and Zhenglin Yang

    BMC Medical Genetics 2017 18:69

    Published on: 26 June 2017

  21. Case report

    Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report

    Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by short stature, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe. MR...

    Fatma Bastaki, Pratibha Nair, Madiha Mohamed, Ethar Mustafa Malik, Mustafa Helmi, Mahmoud Taleb Al-Ali and Abdul Rezzak Hamzeh

    BMC Medical Genetics 2017 18:68

    Published on: 15 June 2017

  22. Research article

    MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India

    Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the DMD gene. The aim of this study was to predict the effect of gene mutations on ...

    Sekar Deepha, Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Atchayaram Nalini, Narayanappa Gayathri and Meera Purushottam

    BMC Medical Genetics 2017 18:67

    Published on: 13 June 2017

  23. Case report

    A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report

    According to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT s...

    Motoi Nishimura, Marehiko Ueda, Ryota Ebata, Emi Utsuno, Takuma Ishii, Kazuyuki Matsushita, Osamu Ohara, Naoki Shimojo, Yoshio Kobayashi and Fumio Nomura

    BMC Medical Genetics 2017 18:66

    Published on: 8 June 2017

  24. Research article

    Two novel C-terminal frameshift mutations in the β-globin gene lead to rapid mRNA decay

    The thalassemia syndromes are classified according to the globin chain or chains whose production is affected. β-thalassemias are caused by point mutations or, more rarely, deletions or insertions of a few nuc...

    Katarzyna Rawa, Roman J. Szczesny, Ewelina P. Owczarek, Anna Adamowicz-Salach, Anna Klukowska, Urszula Demkow, Danuta Plochocka, Pawel Szczesny, Monika Gora, Andrzej Dziembowski and Beata Burzynska

    BMC Medical Genetics 2017 18:65

    Published on: 8 June 2017

  25. Research article

    KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment

    Type 2 diabetes (T2D) is a worldwide epidemic with considerable health and economic consequences. Sulfonylureas are widely used drugs for the treatment of patients with T2D. KCNJ11 and ABCC8 encode the Kir6.2 (po...

    Jingwen Song, Yunzhong Yang, Franck Mauvais-Jarvis, Yu-Ping Wang and Tianhua Niu

    BMC Medical Genetics 2017 18:64

    Published on: 6 June 2017

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