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  2. Mutations in ARL6IP1, which encodes a tetraspan membrane protein localized to the endoplasmic reticulum (ER), have been recently described in a large family with a complicated form of hereditary spastic paraplegi...

    Authors: Salma M. Wakil, Safa Alhissi, Haya Al Dossari, Ayesha Alqahtani, Sherin Shibin, Brahim T. Melaiki, Josef Finsterer, Amal Al-Hashem, Saeed Bohlega and Anas M. Alazami

    Citation: BMC Medical Genetics 2019 20:119

    Content type: Case report

    Published on:

  3. Recessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA). Some patients also have a thyroid iodination defect that can lead t...

    Authors: Janet R. Chao, Parna Chattaraj, Tina Munjal, Keiji Honda, Kelly A. King, Christopher K. Zalewski, Wade W. Chien, Carmen C. Brewer and Andrew J. Griffith

    Citation: BMC Medical Genetics 2019 20:118

    Content type: Research article

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  4. Mesenchymal stem cells (MSCs) are attractive choices in regenerative medicine and can be genetically modified to obtain better results in therapeutics. Bone development and metabolism are controlled by various...

    Authors: Samaneh Mollazadeh, Bibi Sedigheh Fazly Bazzaz, Vajiheh Neshati, Antoine A. F. de Vries, Hojjat Naderi-Meshkin, Majid Mojarad, Mahdi Mirahmadi, Zeinab Neshati and Mohammad Amin Kerachian

    Citation: BMC Medical Genetics 2019 20:117

    Content type: Research article

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  5. Preterm birth is a significant clinical problem and an enormous burden on society, affecting one in eight pregnant women and their newborns. Despite decades of research, the molecular mechanism underlying its ...

    Authors: Jessica Schuster, Alper Uzun, Joan Stablia, Christoph Schorl, Mari Mori and James F. Padbury

    Citation: BMC Medical Genetics 2019 20:116

    Content type: Research article

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  6. Calreticulin (CALR) gene mutations are currently recommended as biomarkers in diagnosis of patients with myeloproliferative neoplasms (MPN) with Jak2 V617F negative phenotype. Our aim was to establish a rapid, lo...

    Authors: Ngo Tat Trung, Dao Thanh Quyen, Nghiem Xuan Hoan, Dao Phuong Giang, Tran Thi Huyen Trang, Thirumalaisamy P. Velavan, Mai Hong Bang and Le Huu Song

    Citation: BMC Medical Genetics 2019 20:115

    Content type: Research article

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  7. Dedicator of cytokinesis 8 (DOCK8) deficiency (MIM #243700) is a rare disease, leads to a combined primary immunodeficiency (PID), and accounts for the autosomal recessive-hyper immunoglobulin E syndrome (AR-H...

    Authors: Lika’a Fasih Y. Al-Kzayer, Hanadi Munaf H. Al-Aradi, Tomonari Shigemura, Kenji Sano, Miyuki Tanaka, Motoharu Hamada, Kenan Hussien Ali, Osamah Mohammed Aldaghir, Yozo Nakazawa and Yusuke Okuno

    Citation: BMC Medical Genetics 2019 20:114

    Content type: Case report

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  8. This meta-analysis was conducted to assess the relationship between the transforming growth factor-beta 1 (TGF-β1) + 869 T/C gene polymorphism, + 915 G/C gene polymorphism, and the susceptibility of acute reje...

    Authors: Hong-Yan Li, Tianbiao Zhou, Shujun Lin and Wenshan Lin

    Citation: BMC Medical Genetics 2019 20:113

    Content type: Research article

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  9. Septo-optic dysplasia (SOD), also known as de-Morsier syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain...

    Authors: A. Fernández-Marmiesse, M. S. Pérez-Poyato, A. Fontalba, E. Marco de Lucas, M. T. Martínez, M. J. Cabero Pérez and M. L. Couce

    Citation: BMC Medical Genetics 2019 20:112

    Content type: Case report

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  10. Focal segmental glomerulosclerosis (FSGS) is still one of the common causes of refractory nephrotic syndrome. Nephrin, encoded by podocyte-specific NPHS1 gene, participated in the pathogenesis of FSGS. The sit...

    Authors: Ling Zhuo, Lulin Huang, Zhenglin Yang, Guisen Li and Li Wang

    Citation: BMC Medical Genetics 2019 20:111

    Content type: Research article

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  11. Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder of the urea cycle caused by a deficiency in the argininosuccinate synthetase (ASS1) enzyme due to mutations in the ASS1 gene. Only a few Chinese...

    Authors: Yiming Lin, Hongzhi Gao, Bin Lu, Shuang Zhou, Tianwen Zheng, Weihua Lin, Lin Zhu, Mengyi Jiang and Qingliu Fu

    Citation: BMC Medical Genetics 2019 20:110

    Content type: Case report

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  12. Gallstone disease (GSD) is a common biliary tract disease worldwide. Previous studies have investigated the association of apolipoprotein E (APOE) E4 with GSD and reported inconsistent results.

    Authors: Lizhuo Li, Xin Qiao, Xia Wang, Di Liu, Qingmu Xue, Lu Han, Fei Dai, Guomin Ma, Zhipeng Yang, Tao Zhang, Shuo Yang, Shikang Cai, Mingyue Gao and Jingyun Yang

    Citation: BMC Medical Genetics 2019 20:109

    Content type: Research article

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  13. Split hand/foot malformation (SHFM) is a group of congenital skeletal disorders which may occur either as an isolated abnormality or in syndromic forms with extra-limb manifestations. Chromosomal micro-duplica...

    Authors: Chamara Sampath Paththinige, Nirmala Dushyanthi Sirisena, Fabienne Escande, Sylvie Manouvrier, Florence Petit and Vajira Harshadeva Weerabaddana Dissanayake

    Citation: BMC Medical Genetics 2019 20:108

    Content type: Case report

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  14. Type 2 diabetes mellitus is believed to be a polygenic disorder that develops as a result of a complex interaction between multiple genes and environmental factors. KCNJ11 gene encodes a Kir6.2 protein which f...

    Authors: Osama Makhzoom, Younes Kabalan and Faizeh AL-Quobaili

    Citation: BMC Medical Genetics 2019 20:107

    Content type: Research article

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  15. Oculocutaneous albinism (OCA) is a human autosomal-recessive hypopigmentation disorder with hypopigmentation in the skin, hair, and eyes. OCA1 and OCA2 are caused by mutations of the TYR and OCA2 genes, respectiv...

    Authors: Qi Yang, Sheng Yi, Mengting Li, Bobo Xie, Jinsi Luo, Jin Wang, Xiuliang Rong, Qinle Zhang, Zailong Qin, Limei Hang, Shihan Feng and Xin Fan

    Citation: BMC Medical Genetics 2019 20:106

    Content type: Research article

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  16. Axenfeld-Rieger syndrome (ARS) is an autosomal dominant genetic disorder that is characterized by specific abnormalities of the anterior segment of the eye. Heterozygous mutations in two developmental transcri...

    Authors: Lusi Zhang, Yingqian Peng, Pingbo Ouyang, Youling Liang, Huilan Zeng, Nuo Wang, Xuanchu Duan and Jingming Shi

    Citation: BMC Medical Genetics 2019 20:105

    Content type: Research article

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  17. A multidirectional relationship has been demonstrated between myocardial infarction (MI) and depression. However, the causal genetic factors and molecular mechanisms underlying this interaction remain unclear....

    Authors: Zhenguo Dai, Qian Li, Guang Yang, Yini Wang, Yang Liu, Zhilei Zheng, Yingfeng Tu, Shuang Yang and Bo Yu

    Citation: BMC Medical Genetics 2019 20:104

    Content type: Research article

    Published on:

  18. Ovarian cancer (OC) is the most deadly gynaecological cancer, contributing significantly to female cancer-related deaths worldwide. Improving the outlook for OC patients depends on the identification of more r...

    Authors: Qian Zhao and Conghong Fan

    Citation: BMC Medical Genetics 2019 20:103

    Content type: Research article

    Published on:

  19. 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

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  20. 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

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  21. 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

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  22. 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:

  23. 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:

  24. 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

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  25. 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:

  26. 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:

  27. 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

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  28. 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:

  31. 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:

  32. 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:

  33. 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:

  34. 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:

  36. 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:

  37. 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:

  39. 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:

  40. 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:

  41. 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:

  42. 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:

  43. 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:

  44. 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:

  45. 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:

  46. 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:

  47. 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:

  48. 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:

  49. 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:

  50. 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:

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