Skip to main content

Articles

Page 6 of 45

  1. Multiple factors are implicated in the etiology and pathogenesis of Abdominal Aortic Aneurysms (AAA). Available literature of genetic studies has previously suggested the possible roles of autoimmunity, geneti...

    Authors: Javier E. Anaya-Ayala, Susana Hernandez-Doño, Monica Escamilla-Tilch, Jose Marquez-Garcia, Kemberly Hernandez-Sotelo, Rodrigo Lozano-Corona, Daniela Ruiz-Gomez, Julio Granados and Carlos A. Hinojosa

    Citation: BMC Medical Genetics 2019 20:102

    Content type: Research article

    Published on:

  2. N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NA...

    Authors: Rasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, Kristina Pilekær Sørensen, Mads Damkjær, Sally Ann Lynch and Thomas Arnesen

    Citation: BMC Medical Genetics 2019 20:101

    Content type: Research article

    Published on:

  3. Cervical cancer has high prevalence and mortality rates in worldwide female population. Persistent infection by high-risk Human Papillomavirus (hr-HPV) is the main cause of this cancer. However, many environme...

    Authors: Nayara Nascimento Toledo Silva, Adriano de Paula Sabino, Alexandre Tafuri and Angélica Alves Lima

    Citation: BMC Medical Genetics 2019 20:100

    Content type: Research article

    Published on:

  4. Metabolic syndrome (MetS), defined as a cluster of metabolic risk factors including dyslipidemia, insulin-resistance, and elevated blood pressure, has been known as partly heritable. MetS effects the lives of ...

    Authors: Sokanha Kong and Yoon Shin Cho

    Citation: BMC Medical Genetics 2019 20:99

    Content type: Research article

    Published on:

  5. X-linked Adrenal Hypoplasia Congenita (AHC) is a rare cause of primary adrenal insufficiency due to mutations in the NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insuffici...

    Authors: Lorenzo Iughetti, Laura Lucaccioni, Patrizia Bruzzi, Silvia Ciancia, Elena Bigi, Simona Filomena Madeo, Barbara Predieri and Florence Roucher-Boulez

    Citation: BMC Medical Genetics 2019 20:98

    Content type: Case report

    Published on:

  6. Metabolic syndrome (MetS) is characterized by a clustering of cardiovascular risk factors that include: abdominal obesity, dyslipidemia, hypertension and glucose intolerance. Angiopoietin-like protein 4 (ANGPT...

    Authors: Sara Kharazmi-Khorassani, Jasmin Kharazmi-Khorassani, Azam Rastegar-Moghadam, Sara Samadi, Hamideh Ghazizadeh, Maryam Tayefi, Gordon A. Ferns, Majid Ghayour-Mobarhan, Amir Avan and Habibollah Esmaily

    Citation: BMC Medical Genetics 2019 20:97

    Content type: Research article

    Published on:

  7. The highly conservative miR-15/107 family (also named as miR-15/107 gene group) including ten miRNA members is currently recognized strongly implicated in multiple human disorders. Some studies focus on the en...

    Authors: Si Wang, Wenhua Zhu, Jing Xu, Yuanxu Guo, Jidong Yan, Liesu Meng, Congshan Jiang and Shemin Lu

    Citation: BMC Medical Genetics 2019 20:96

    Content type: Research article

    Published on:

  8. Tubulinopathies result from mutations in tubulin genes, including TUBG1, responsible for cell microtubules, are characterized by brain development abnormalities, microcephaly, early-onset epilepsy, and motor impa...

    Authors: Yue T. K. Yuen, Ilaria Guella, Elke Roland, Michael Sargent and Cyrus Boelman

    Citation: BMC Medical Genetics 2019 20:95

    Content type: Case report

    Published on:

  9. There are several studies with inconsistent conclusions regarding the association between the rs1801133 and rs1801131 polymorphisms within the MTHFR (methylenetetrahydrofolate reductase) gene and colorectal polyp...

    Authors: Manyi Sun, Jin Zhong, Li Zhang and Songli Shi

    Citation: BMC Medical Genetics 2019 20:94

    Content type: Research article

    Published on:

  10. CHARGE syndrome is characterized by coloboma, heart defects, choanal atresia, growth retardation, genitourinary malformation and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene is t...

    Authors: Xiang Chen, Kai Yan, Yanyan Gao, Huijun Wang, Guoqiang Chen, Bingbing Wu, Qian Qin, Lin Yang and Wenhao Zhou

    Citation: BMC Medical Genetics 2019 20:93

    Content type: Research article

    Published on:

  11. Hereditary spherocytosis (HS) is a common type of hereditary hemolytic anemia. According to the current diagnostic criteria of HS, patients with a family history of HS, typical clinical features and laboratory...

    Authors: Hongwei Shen, Hui Huang, Kaizhong Luo, Yan Yi and Xiaoliu Shi

    Citation: BMC Medical Genetics 2019 20:90

    Content type: Case report

    Published on:

  12. Cystic fibrosis has been largely under-diagnosed and thus, limited data is available on the incidence of cystic fibrosis in Sri Lanka. Our aim is to describe the phenotypic and genotypic spectrum of children w...

    Authors: Neluwa Liyanage Ruwan Indika, Dinesha Maduri Vidanapathirana, Hewa Warawitage Dilanthi, Grace Angeline Malarnangai Kularatnam, Nambage Dona Priyani Dhammika Chandrasiri and Eresha Jasinge

    Citation: BMC Medical Genetics 2019 20:89

    Content type: Case report

    Published on:

  13. Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessively-inherited defect of γ-aminobutyric acid (GABA) metabolism. The absence of SSADH, which is encoded by aldehyde dehydrogenas...

    Authors: Ping Wang, Fengying Cai, Lirong Cao, Yizheng Wang, Qianqian Zou, Peng Zhao, Chao Wang, Yuqin Zhang, Chunquan Cai and Jianbo Shu

    Citation: BMC Medical Genetics 2019 20:88

    Content type: Case report

    Published on:

  14. Single nucleotide polymorphisms (SNPs) in the sodium taurocholate co-transporting polypeptide (NTCP) have been showed to be associated with natural history of hepatitis B virus (HBV) infection. However, it is ...

    Authors: Natthaya Chuaypen, Nongnaput Tuyapala, Nutcha Pinjaroen, Sunchai Payungporn and Pisit Tangkijvanich

    Citation: BMC Medical Genetics 2019 20:87

    Content type: Research article

    Published on:

  15. Glycogen storage disease type I (GSD I), also known as von Gierk disease, is a metabolic disorder leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, hypoglycemi...

    Authors: Wenying Wang, Rentao Yu, Wenting Tan, Yunjie Dan, Guohong Deng and Jie Xia

    Citation: BMC Medical Genetics 2019 20:85

    Content type: Case report

    Published on:

  16. Progressive bilateral sensorineural deafness in postlingual period may be linked to many different etiologies including genetic factors. Identification of the exact deafness cause may, therefore, be quite chal...

    Authors: Lukas Varga, Daniel Danis, Martina Skopkova, Ivica Masindova, Zuzana Slobodova, Lucia Demesova, Milan Profant and Daniela Gasperikova

    Citation: BMC Medical Genetics 2019 20:84

    Content type: Case report

    Published on:

  17. The association between the vitamin D receptor (VDR) gene and gestational diabetes mellitus (GDM) has not been investigated in Turkish pregnant women. We aimed to investigate associations between VDR gene BsmI (r...

    Authors: Mahmut Apaydın, Selvihan Beysel, Nilnur Eyerci, Ferda Alparslan Pinarli, Mustafa Ulubay, Muhammed Kizilgul, Ozhan Ozdemir, Mustafa Caliskan and Erman Cakal

    Citation: BMC Medical Genetics 2019 20:82

    Content type: Research article

    Published on:

  18. The prevalence of CGG repeat expansion mutation in FMR1 gene varies among different populations. In this study, we investigated the prevalence of this mutation in women of reproductive age from northern China.

    Authors: Yinan Ma, Xing Wei, Hong Pan, Songtao Wang, Xin Wang, Xiaowei Liu, Liying Zou, Xiaomei Wang, Xiaorong Wang, Hua Yang, Fengying Wang, Kefang Wang, Lifang Sun, Xiaolin Qiao, Yue Yang, Xiuhua Ma…

    Citation: BMC Medical Genetics 2019 20:81

    Content type: Research article

    Published on:

  19. Intellectual disability/developmental delay is a complex condition with extraordinary heterogeneity. A large proportion of patients lacks a specific diagnosis. Next generation sequencing, enabling identificati...

    Authors: Huifang Yan, Zhen Shi, Ye Wu, Jiangxi Xiao, Qiang Gu, Yanling Yang, Ming Li, Kai Gao, Yinyin Chen, Xiaoping Yang, Haoran Ji, Binbin Cao, Ruoyu Duan, Yuwu Jiang and Jingmin Wang

    Citation: BMC Medical Genetics 2019 20:80

    Content type: Research article

    Published on:

  20. The X-ray repair cross-complementing group 3 (XRCC3) is an efficient component of homologous recombination and is required for the preservation of chromosomal integrity in mammalian cells. The association between...

    Authors: Sepideh Dashti, Zahra Taherian-Esfahani, Abbasali Keshtkar and Soudeh Ghafouri-Fard

    Citation: BMC Medical Genetics 2019 20:79

    Content type: Research article

    Published on:

  21. Few manuscripts have reported phenotypes of skeletal muscle myopathies caused by mutations in the head region of slow/cardiac beta-myosin heavy chain (MyHCI). Among the patients, some of them showed the phenot...

    Authors: Jean Mamelona, Louisa Filice, Youcef Oussedik, Nicolas Crapoulet, Rodney J. Ouellette and Alier Marrero

    Citation: BMC Medical Genetics 2019 20:78

    Content type: Case report

    Published on:

  22. Mitochondrial respiratory chain consists of five complexes encoded by nuclear and mitochondrial genomes. Mitochondrial aminoacyl-tRNA synthetases are key enzymes in the synthesis of such complexes. Bi-allelic ...

    Authors: Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta and Stefano Sotgiu

    Citation: BMC Medical Genetics 2019 20:77

    Content type: Case report

    Published on:

  23. Brown-Vialetto-Van Laere Syndrome (BVVLS), a rare neurological disorder characterized by motor, sensory, and cranial neuronopathies, is mainly associated with defective riboflavin transporters encoded by SLC52...

    Authors: Kaili Shi, Zhen Shi, Huifang Yan, Xiaodong Wang, Yanling Yang, Hui Xiong, Qiang Gu, Ye Wu, Yuwu Jiang and Jingmin Wang

    Citation: BMC Medical Genetics 2019 20:76

    Content type: Case report

    Published on:

  24. Hereditary colon cancer is characterized by the inheritance of an abnormal gene mutation which predisposes to malignancy. Recent advances in genomic medicine have identified mutations in “novel” genes as confe...

    Authors: Mir Ali, Celia Dawn Delozier and Uzair Chaudhary

    Citation: BMC Medical Genetics 2019 20:75

    Content type: Case report

    Published on:

  25. α-thalassaemia is an inherited blood disorder caused by mutations in the α-globin gene cluster. Recognizing the pathogenic α-globin gene mutations associated with α-Thalassemia is of significant importance to ...

    Authors: Jianlong Zhuang, Jie Tian, Jitao Wei, Yu Zheng, Qianmei Zhuang, Yuanbai Wang, Qingyue Xie, Shuhong Zeng, Geng Wang, Yanchao Pan and Yuying Jiang

    Citation: BMC Medical Genetics 2019 20:74

    Content type: Research article

    Published on:

  26. Pathogenic variants associated with hereditary breast cancer have been reported for BRCA1 and BRCA2 (BRCA1/2) genes in patients from multiple ethnicities, but limited information is available from sub-Saharan Afr...

    Authors: Jean Pascal Demba Diop, Rokhaya Ndiaye Diallo, Violaine Bourdon-Huguenin, Ahmadou Dem, Doudou Diouf, Mamadou Moustapha Dieng, Seydi Abdoul Ba, Yacouba Dia, Sidy Ka, Babacar Mbengue, Alassane Thiam, Oumar Faye, Papa Amadou Diop, Hagay Sobol and Alioune Dieye

    Citation: BMC Medical Genetics 2019 20:73

    Content type: Research article

    Published on:

  27. 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

    Published on:

  28. Nail-patella syndrome (NPS) is an autosomal dominant developmental disorder most commonly characterized by dyplasia of nail or patella, the radial head or the humeral head hypoplasia, and, frequently ocular ab...

    Authors: Xiaoyi Yan, Jie Lin, Yifan Wang, Junli Xuan, Ping Yu, Tingwei Guo and Fan Jin

    Citation: BMC Medical Genetics 2019 20:71

    Content type: Research article

    Published on:

  29. X-linked spondyloepiphyseal dysplasia tarda (SEDT-XL) is a skeletal disorder characterized by defective structures of vertebral bodies and/or of epiphyses of the long bones, resulting in moderately short statu...

    Authors: Joon Yeon Won, Dayeon Kim, Seon Young Park, Hye Ran Lee, Jong-Seok Lim, Jong Hoon Park, Mi Hyun Song, Hae Ryong Song, Ok-Hwa Kim, Yonghwan Kim and Tae-Joon Cho

    Citation: BMC Medical Genetics 2019 20:70

    Content type: Case report

    Published on:

  30. 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

    Published on:

  31. 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

    Published on:

  32. 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

    Published on:

  33. 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

    Published on:

  34. 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

    Published on:

  35. 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

    Published on:

  36. 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

    Published on:

  37. 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

    Published on:

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

  38. 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

    Published on:

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

  39. 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

    Published on:

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

  40. 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

    Published on:

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

  41. 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

    Published on:

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

  42. 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

    Published on:

  43. 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

    Published on:

  44. 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

    Published on:

  45. 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

    Published on:

2018 Journal Metrics

Announcement

As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.