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  1. Genome wide association study (GWAS) has become the major means to screen for the genetic variants associated with risk and prognosis of different diseases. A recent GWAS has discovered three novel intronic si...

    Authors: Jiru Wang, Qiuzi Wang, Bin Wei, Yu Zhou, Zhaoye Qian, Yong Gao and Xiaofei Chen

    Citation: BMC Medical Genetics 2019 20:72

    Content type: Research article

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  2. Although familial clustering of cancers is relatively common, only a small proportion of familial cancer risk can be explained by known cancer predisposition genes.

    Authors: Rachel M. Jones, Phillip E. Melton, Mark Pinese, Alexander J. Rea, Evan Ingley, Mandy L. Ballinger, David J. Wood, David M. Thomas and Eric K. Moses

    Citation: BMC Medical Genetics 2019 20:69

    Content type: Research article

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  3. Usher syndrome, the most common form of inherited deaf-blindness, is unlike many other forms of syndromic hereditary hearing loss in that the extra aural clinical manifestations are also detrimental to communi...

    Authors: Justin A. Pater, Jane Green, Darren D. O’Rielly, Anne Griffin, Jessica Squires, Taylor Burt, Sara Fernandez, Bridget Fernandez, Jim Houston, Jiayi Zhou, Nicole M. Roslin and Terry-Lynn Young

    Citation: BMC Medical Genetics 2019 20:68

    Content type: Research article

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  4. Lynch syndrome, is an autosomal dominantly inherited disease that predisposes individuals to a high risk of colorectal cancers, and some mismatch-repair genes have been identified as causative genes. The purpo...

    Authors: Tomoyuki Momma, Kenji Gonda, Yoshinori Akama, Eisei Endo, Daisuke Ujiie, Shotaro Fujita, Yuko Maejima, Shoichiro Horita, Kenju Shimomura, Shigehira Saji, Koji Kono, Rei Yashima, Fumiaki Watanabe, Kokichi Sugano and Tadashi Nomizu

    Citation: BMC Medical Genetics 2019 20:67

    Content type: Case report

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  5. Hunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene. The IDS gene encodes a lysosomal enzyme, iduronate 2-sulfatase. The disea...

    Authors: A. N. Semyachkina, E. Y. Voskoboeva, E. Y. Zakharova, E. A. Nikolaeva, I. V. Kanivets, A. D. Kolotii, G. V. Baydakova, M. N. Kharabadze, R. G. Kuramagomedova and N. V. Melnikova

    Citation: BMC Medical Genetics 2019 20:66

    Content type: Case report

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  6. Mutations in the coding region of FOXP2 are known to cause speech and language impairment. However, it is not clear how dysregulation of the gene contributes to language deficit. Interestingly, microdeletions of ...

    Authors: Raúl Torres-Ruiz, Antonio Benítez-Burraco, Marta Martínez-Lage, Sandra Rodríguez-Perales and Paloma García-Bellido

    Citation: BMC Medical Genetics 2019 20:65

    Content type: Research article

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  7. GATA2 is a transcription factor that is a critical regulator of gene expression in hematopoietic cells. GATA2 deficiency presents with multi-lineage cytopenia, mycobacterial, fungal and viral infections. Patie...

    Authors: Daniela Palheiro Mendes-de-Almeida, Francianne Gomes Andrade, Gustavo Borges, Filipe V. dos Santos-Bueno, Iracema F. Vieira, Luana Kelly M. da S. da Rocha, Daniella A. Mendes-da-Cruz, Rosely M. Zancopé-Oliveira, Rodrigo T. Calado and Maria S. Pombo-de-Oliveira

    Citation: BMC Medical Genetics 2019 20:64

    Content type: Case report

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  8. We performed clinical and genetic characterization of a family with cavitary optic disc anomaly (CODA), an autosomal dominant condition that causes vision loss due to adult-onset maculopathy in the majority of...

    Authors: Eileen S. Hwang, Denise J. Morgan, Katie L. Pennington, Leah A. Owen, John H. Fingert, Paul S. Bernstein and Margaret M. DeAngelis

    Citation: BMC Medical Genetics 2019 20:63

    Content type: Research article

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  9. CpG island methylator phenotype (CIMP) is found in 15–20% of malignant colorectal tumors and is characterized by strong CpG hypermethylation over the genome. The molecular mechanisms of this phenomenon are not...

    Authors: Maria S. Fedorova, George S. Krasnov, Elena N. Lukyanova, Andrew R. Zaretsky, Alexey A. Dmitriev, Nataliya V. Melnikova, Alexey A. Moskalev, Sergey L. Kharitonov, Elena A. Pudova, Zulfiya G. Guvatova, Anastasiya A. Kobelyatskaya, Irina A. Ishina, Elena N. Slavnova, Anastasia V. Lipatova, Maria A. Chernichenko, Dmitry V. Sidorov…

    Citation: BMC Medical Genetics 2019 20(Suppl 1):52

    Content type: Research

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    This article is part of a Supplement: Volume 20 Supplement 1

  10. Population structure is an important factor in the genetic association studies but often remains underexplored for many human populations. We identified exome variants in 39 Siberian Caucasian individuals from...

    Authors: Andrey A. Yurchenko, Nikolai S. Yudin and Mikhail I. Voevoda

    Citation: BMC Medical Genetics 2019 20(Suppl 1):51

    Content type: Research

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    This article is part of a Supplement: Volume 20 Supplement 1

  11. Estrogen deficiency effects on affective-related behavior are restricted to certain periods of age after ovary removal. Among other nutraceuticals, one of such «natural» substances for treatment of affective-r...

    Authors: Julia O. Fedotova

    Citation: BMC Medical Genetics 2019 20(Suppl 1):49

    Content type: Research

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    This article is part of a Supplement: Volume 20 Supplement 1

  12. Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors that arise from the paraganglion at the bifurcation of the carotid artery and are responsible for approximately 65% of all head and neck paragangli...

    Authors: Anastasiya V. Snezhkina, Elena N. Lukyanova, Andrew R. Zaretsky, Dmitry V. Kalinin, Anatoly V. Pokrovsky, Alexander L. Golovyuk, George S. Krasnov, Maria S. Fedorova, Elena A. Pudova, Sergey L. Kharitonov, Nataliya V. Melnikova, Boris Y. Alekseev, Marina V. Kiseleva, Andrey D. Kaprin, Alexey A. Dmitriev and Anna V. Kudryavtseva

    Citation: BMC Medical Genetics 2019 20(Suppl 1):48

    Content type: Research

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    This article is part of a Supplement: Volume 20 Supplement 1

  13. Hyperprolactinemia (HPRL) is a classical side effect of antipsychotic drugs primarily attributed to blockade of dopamine D2 receptors (DRD2s) on the membranes of lactotroph cells within the pituitary gland. Ce...

    Authors: Diana Z. Osmanova, Maxim B. Freidin, Olga Yu. Fedorenko, Ivan V. Pozhidaev, Anastasiia S. Boiko, Natalia M. Vyalova, Vladimir V. Tiguntsev, Elena G. Kornetova, Anton J. M. Loonen, Arkadiy V. Semke, Bob Wilffert, Nikolay A. Bokhan and Svetlana A. Ivanova

    Citation: BMC Medical Genetics 2019 20(Suppl 1):47

    Content type: Research

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    This article is part of a Supplement: Volume 20 Supplement 1

  14. Reports on autosomal recessive optic atrophy (arOA) are sparse and so far, only one gene has been specifically associated with non-syndromic arOA, namely TMEM126A. To date, all reports of pathogenic TMEM126A vari...

    Authors: Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger and Nicole Weisschuh

    Citation: BMC Medical Genetics 2019 20:62

    Content type: Case report

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  15. Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form.

    Authors: Malena P. Pantou, Polyxeni Gourzi, Aggeliki Gkouziouta, Iakovos Armenis, Loukas Kaklamanis, Christianna Zygouri, Pantelis Constantoulakis, Stamatis Adamopoulos and Dimitrios Degiannis

    Citation: BMC Medical Genetics 2019 20:61

    Content type: Case report

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  16. MYO15A variants are responsible for human non-syndromic autosomal recessive deafness (DFNB3). The majority of MYO15A variants are associated with a congenital severe-to-profound hearing loss phenotype, except for...

    Authors: Jing Zhang, Jing Guan, Hongyang Wang, Linwei Yin, Dayong Wang, Lidong Zhao, Huifang Zhou and Qiuju Wang

    Citation: BMC Medical Genetics 2019 20:60

    Content type: Research article

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  17. Several studies have focused on the association between KIF1B rs17401966 polymorphism and susceptibility to hepatitis B virus-related (HBV-related) hepatocellular carcinoma (HCC), but the conclusions have been...

    Authors: Ying-ying Luo, Hong-peng Zhang, Ai-long Huang and Jie-li Hu

    Citation: BMC Medical Genetics 2019 20:59

    Content type: Research article

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  18. The chitinase-like protein YKL-40 plays a major role in inhibiting the inflammasome. Deregulation of inflammasome activation is emerging as a key modulator of pathologic airway inflammation in patients with as...

    Authors: Jun Kanazawa, Haruna Kitazawa, Hironori Masuko, Yohei Yatagai, Tohru Sakamoto, Yoshiko Kaneko, Hiroaki Iijima, Takashi Naito, Takefumi Saito, Emiko Noguchi, Satoshi Konno, Masaharu Nishimura, Tomomitsu Hirota, Mayumi Tamari and Nobuyuki Hizawa

    Citation: BMC Medical Genetics 2019 20:58

    Content type: Research article

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  19. Many mutations in the α-tectorin gene (TECTA) have been reported to cause non-syndromic hearing loss (NSHL) in either a dominant or recessive inheritance pattern. Among the identified TECTA mutations, H1400Y has ...

    Authors: Gi-Sung Nam, John Hoon Rim, Jae Young Choi, Heon Yung Gee, Jong Rak Choi, Seung-Tae Lee and Jinsei Jung

    Citation: BMC Medical Genetics 2019 20:57

    Content type: Case report

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  20. PHKA2 gene mutations can cause liver phosphorylase kinase (PhK) deficiency, resulting in glycogen storage disease type IXa (GSD IXa). Elevated liver transaminase levels and liver enlargement are the most frequent...

    Authors: Junling Fu, Tong Wang and Xinhua Xiao

    Citation: BMC Medical Genetics 2019 20:56

    Content type: Case report

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  21. RNF213 rare variant-p.R4810K (rs112735431) was significantly associated with intracranial artery stenosis/occlusion disease (ICASO) in Japan and Korea and to a lesser degree in China. Considering the allelic hete...

    Authors: Xin Liao, Tong Zhang, Bingyang Li, Shimin Hu, Junyu Liu, Jing Deng, Hongzhuan Tan and Junxia Yan

    Citation: BMC Medical Genetics 2019 20:55

    Content type: Research article

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  22. Primary cutaneous malignant melanoma is a cancer of the pigment cells of the skin, some of which are accompanied by BRAF mutation. Melanoma incidence and mortality rates have been rising around the world. As the ...

    Authors: Bin Zhao, Yanqiu You, Zheng Wan, Yunhan Ma, Yani Huo, Hongyi Liu, Yuanyuan Zhou, Wei Quan, Weibin Chen, Xiaohong Zhang, Fujun Li and Yilin Zhao

    Citation: BMC Medical Genetics 2019 20:54

    Content type: Research article

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  23. Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal-recessive, non-inflammatory arthropathy, shown to be caused by mutations in the WNT1-inducible signaling pathway protein 3 (WISP3) gene. Although ...

    Authors: Ben Pode-Shakked, Asaf Vivante, Ortal Barel, Shai Padeh, Dina Marek-Yagel, Alvit Veber, Shachar Abudi, Aviva Eliyahu, Irit Tirosh, Shiri Shpilman, Shirlee Shril, Friedhelm Hildebrandt, Mordechai Shohat and Yair Anikster

    Citation: BMC Medical Genetics 2019 20:53

    Content type: Research article

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  24. DNA double-strand breaks (DSBs) are among the most deleterious types of DNA damage. DSBs are repaired by homologous recombination or non-homologous end-joining (NHEJ). NHEJ, which is central to the process of ...

    Authors: Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Zahra Hojaji, Parham Habibzadeh, Dorna Afshinfar, Mohammad Miryounesi, Majid Fardaei and Mohammad Ali Faghihi

    Citation: BMC Medical Genetics 2019 20:45

    Content type: Case report

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  25. Cystic fibrosis (CF; OMIM #219700) is a common autosomal recessive disease caused by pathogenic variants (henceforward mutations) in the cystic fibrosis transmembrane conductance regulator gene (CFTR). The spectr...

    Authors: N. V. Petrova, N. Y. Kashirskaya, D. K. Saydaeva, A. V. Polyakov, T.A. Adyan, O. I. Simonova, Y. V. Gorinova, E. I. Kondratyeva, V. D. Sherman, O. G. Novoselova, T. A. Vasilyeva, A. V. Marakhonov, M. Macek Jr, E. K. Ginter and R. A. Zinchenko

    Citation: BMC Medical Genetics 2019 20:44

    Content type: Research article

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  26. To investigate the clinical features and the underlying causal gene of a family with hereditary late-onset deafness in Inner Mongolia of China, and to provide evidence for the early genetic screening and diagn...

    Authors: Ningjin Wu, Husile Husile, Liqing Yang, Yaning Cao, Xing Li, Wenyan Huo, Haihua Bai, Yangjian Liu and Qizhu Wu

    Citation: BMC Medical Genetics 2019 20:43

    Content type: Research article

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  27. Congenital cataract is the most common cause of blindness among children worldwide. The aim of this study was to identify causative mutations in a Chinese family with isolated autosomal dominant posterior subc...

    Authors: Qi Fan, Dan Li, Lei Cai, Xiaodi Qiu, Zhennan Zhao, Jihong Wu, Jin Yang and Yi Lu

    Citation: BMC Medical Genetics 2019 20:42

    Content type: Research article

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  28. Congenital nystagmus (CN) and congenital cataracts are distinct eye diseases and are usually isolated. Cases with CN and congenital cataracts caused by different genes in one family have been rarely reported.

    Authors: Naihong Yan, Lirong Xiao, Chen Hou, Bo Guo, Wei Fan, Yingping Deng and Ke Ma

    Citation: BMC Medical Genetics 2019 20:41

    Content type: Case report

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  29. Hyperekplexia also known as Startle disease is a rare neuromotor hereditary disorder characterized by exaggerated startle responses to unexpected auditory, tactile, and visual stimuli and generalized muscle st...

    Authors: Teresa Sprovieri, Carmine Ungaro, Serena Sivo, Michela Quintiliani, Ilaria Contaldo, Chiara Veredice, Luigi Citrigno, Maria Muglia, Francesca Cavalcanti, Sebastiano Cavallaro, Eugenio Mercuri and Domenica Battaglia

    Citation: BMC Medical Genetics 2019 20:40

    Content type: Case report

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  30. Traditional and novel risk factors cannot sufficiently explain the differential susceptibility to cardiovascular disease (CVD). Epigenetics may serve to partially explain this residual disparity, with life cou...

    Authors: Elena M. Vidrascu, Alexander C. Bashore, Timothy D. Howard and Justin B. Moore

    Citation: BMC Medical Genetics 2019 20:39

    Content type: Research article

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  31. HIF1A (Hypoxia-Inducible-Factor 1A) expression in solid tumors is relevant to establish resistance to therapeutic approaches. The use of compounds direct against hypoxia signaling and HIF1A does not show clini...

    Authors: Flora Cimmino, Marianna Avitabile, Vito Alessandro Lasorsa, Annalaura Montella, Lucia Pezone, Sueva Cantalupo, Feliciano Visconte, Maria Valeria Corrias, Achille Iolascon and Mario Capasso

    Citation: BMC Medical Genetics 2019 20:37

    Content type: Research article

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  32. Acute chorioamnionitis (aCA), inflammation of the placenta and fetal membranes, is a frequently reported lesion in preterm deliveries. Genetic variants in innate immune system genes such as Interleukin-6 (IL6) ma...

    Authors: Chaini Konwar, Giulia F. Del Gobbo, Jefferson Terry and Wendy P. Robinson

    Citation: BMC Medical Genetics 2019 20:36

    Content type: Research article

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  33. This article intends to explore the association between interleukin-6 gene (IL-6) -174 G/C single nucleotide polymorphism (SNP) and the risk and mortality of sepsis by conducting this updated meta-analysis with t...

    Authors: Yao Chen, Yanyan Hu and Zhenju Song

    Citation: BMC Medical Genetics 2019 20:35

    Content type: Research article

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  34. Haemophagocytic lymphohistiocytosis is a life-threatening disease resulting from primary or secondary hyper-inflammatory disorders. The typical symptoms include persistent fever, splenomegaly, cytopenia and si...

    Authors: Lingshuang Sheng, Wei Zhang, Jia Gu, Kefeng Shen, Hui Luo and Yang Yang

    Citation: BMC Medical Genetics 2019 20:34

    Content type: Case report

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  35. Genome-wide association studies (GWASs) of a large cohort of subjects with chronic obstructive pulmonary disease (COPD) have successfully identified multiple risk genes, including fibroblast growth factor 7 (FGF7

    Authors: Xiaomei Zhang, Yongxin Guo, Jing Yang, Jianlou Niu, Lina Du, Haiyan Li and Xiaokun Li

    Citation: BMC Medical Genetics 2019 20:33

    Content type: Research article

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  36. Polycystic ovary syndrome (PCOS) is a common endocrine disorder in reproductive-age women. Multiple susceptible gene as well as environmental factors and their interaction each other are contributed to the PCO...

    Authors: Xiao-Yuan Shi, Ai-Ping Huang, Duo-Wen Xie and Xiao-Long Yu

    Citation: BMC Medical Genetics 2019 20:32

    Content type: Research article

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  37. Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undeg...

    Authors: Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi…

    Citation: BMC Medical Genetics 2019 20:31

    Content type: Research article

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  38. Deafness, autosomal recessive 77 (DFNB77) is a rare non-syndromic hearing loss (NSHL) worldwide, which is caused by deleterious variants within lipoxygenase homology domains 1 (LOXHD1). Here we identified that a ...

    Authors: Na Shen, Ting Wang, Delei Li, Aiguo Liu and Yanjun Lu

    Citation: BMC Medical Genetics 2019 20:30

    Content type: Case report

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  39. Tumor necrosis factor superfamily member 15 (TNFSF15) is closely related to tumorigenesis and development. This study aimed to investigate the correlations between TNFSF15 polymorphisms and genetic susceptibility...

    Authors: Hui Gao, Zeren Niu, Zhi Zhang, Hongjiao Wu, Yuning Xie, Zhenbang Yang, Ang Li, Zhenxian Jia and Xuemei Zhang

    Citation: BMC Medical Genetics 2019 20:29

    Content type: Research article

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  40. Myopia is one of most common eye diseases in the world and affects 1 in 4 Americans. It is a complex disease caused by both environmental and genetics effects; the genetics effects are still not well understoo...

    Authors: Claire L. Simpson, Anthony M. Musolf, Qing Li, Laura Portas, Federico Murgia, Roberto Y. Cordero, Jennifer B. Cordero, Bilal A. Moiz, Emily R. Holzinger, Candace D. Middlebrooks, Deyana D. Lewis, Joan E. Bailey-Wilson and Dwight Stambolian

    Citation: BMC Medical Genetics 2019 20:27

    Content type: Research article

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  41. Schizophrenia is a severe neurodevelopmental disorder with a complex genetic and environmental etiology. Abnormal glutamate ionotropic N-methyl-D-aspartate receptor (NMDA) type subunit 1 (NR1) may be a potenti...

    Authors: Yong-ping Liu, Mei Ding, Xi-cen Zhang, Yi Liu, Jin-feng Xuan, Jia-xin Xing, Xi Xia, Jun Yao and Bao-jie Wang

    Citation: BMC Medical Genetics 2019 20:26

    Content type: Research article

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  42. Age-related macular degeneration (AMD) can cause vision loss or blindness in elderly. The associations between single nucleotide polymorphism (SNP) and AMD in Chinese Tujia ethnic minority group are still uncl...

    Authors: Shengchun Liu, Mingxing Wu, Bianwen Zhang, Xiaojing Xiong, Hao Wang and Xiyuan Zhou

    Citation: BMC Medical Genetics 2019 20:25

    Content type: Research article

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  43. Currently published studies investigating association between the killer cell immunoglobulin-like receptor (KIR) gene polymorphisms and rheumatoid arthritis (RA) reported inconsistent and contradictory results...

    Authors: Hamideh Aghaei, Shayan Mostafaei, Saeed Aslani, Ahmadreza Jamshidi and Mahdi Mahmoudi

    Citation: BMC Medical Genetics 2019 20:24

    Content type: Research article

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  44. Hereditary amyloidosis refers to a wide spectrum of rare diseases with different causative mutations in the genes of various proteins including transthyretin, apolipoprotein AI and AII, gelsolin, lysozyme, cys...

    Authors: Myrto Moutafi, Dimitrios C. Ziogas, Spyros Michopoulos, Tina Bagratuni, Vassiliki Vasileiou, Laura Verga, Giampaolo Merlini, Giovanni Palladini, Charis Matsouka, Meletios A. Dimopoulos and Efstathios Kastritis

    Citation: BMC Medical Genetics 2019 20:23

    Content type: Case report

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  45. There are several meta-analyses on the genetic relationship between the rs1695 polymorphism within the GSTP1 (glutathione S-transferase pi 1) gene and the risk of different SCC (squamous cell carcinoma) diseases,...

    Authors: Shuang Wang, Jingqi Zhang, Fan Jun and Zhijie Bai

    Citation: BMC Medical Genetics 2019 20:22

    Content type: Research article

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  46. The apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3 (APOBEC3) genes A3D, A3F, A3G and A3H have all been implicated in the restriction of human immunodeficiency virus type 1 (HIV-1) replicati...

    Authors: Nontokozo D. Matume, Denis M. Tebit, Laurie R. Gray, Stephen D. Turner, David Rekosh, Pascal O. Bessong and Marie-Louise Hammarskjöld

    Citation: BMC Medical Genetics 2019 20:21

    Content type: Research article

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