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  1. Prostate cancer is one of the five common cancers and has the second incidence rate and the third mortality rate in Iranian population. The purpose of this study was to evaluate the association of rs16901979, ...

    Authors: Behnaz Beikzadeh, Seyed Abdolhamid Angaji and Maryam Abolhasani

    Citation: BMC Medical Genetics 2020 21:81

    Content type: Research article

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  2. Pierson syndrome (PS) is a rare autosomal recessive disorder, characterized by congenital nephrotic syndrome and microcoria. Advances in renal replacement therapies have extended the lifespan of patients, wher...

    Authors: Kei Nishiyama, Mari Kurokawa, Michiko Torio, Yasunari Sakai, Mitsuru Arima, Shoko Tsukamoto, Satoshi Obata, Shogo Minamikawa, Kandai Nozu, Noriyuki Kaku, Yoshihiko Maehara, Koh-Hei Sonoda, Tomoaki Taguchi and Shouichi Ohga

    Citation: BMC Medical Genetics 2020 21:80

    Content type: Case report

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  3. Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chr...

    Authors: Eva Lindberg, Claes Moller, Juha Kere, Satu Wedenoja and Agneta Anderzén-Carlsson

    Citation: BMC Medical Genetics 2020 21:79

    Content type: Case report

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  4. The protein Kruppel-like factor 13 (KLF13) is a member of the KLF family and has been identified as a cardiac transcription factor that is involved in heart development. However, the relationship between KLF13...

    Authors: Wenjuan Li, Baolei Li, Tingting Li, Ergeng Zhang, Qingjie Wang, Sun Chen and Kun Sun

    Citation: BMC Medical Genetics 2020 21:78

    Content type: Research article

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  5. Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive mitochondrial disorder which is caused by mutation in mitochondrial calcium uptake 1 (MICU1) gene located on chromosome 10q22.1. Next Generatio...

    Authors: Marzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Seyed Hasan Tonekaboni and Sirous Zeinali

    Citation: BMC Medical Genetics 2020 21:77

    Content type: Case report

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  6. Despite recent findings that epithelial cell adhesion molecule (EPCAM) deletions can cause Lynch syndrome (LS), its clinical characteristics are still unknown. We present the first case of ileum cancer in a patie...

    Authors: Narushi Iwata, Ayumi Shikama, Wataru Takao, Yoshihiko Hosokawa, Hiroya Itagaki, Nobutaka Tasaka, Azusa Akiyama, Hiroyuki Ochi, Takeo Minaguchi, Miwa Arita, Emiko Noguchi, Toshikazu Moriwaki and Toyomi Satoh

    Citation: BMC Medical Genetics 2020 21:76

    Content type: Case report

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  7. β Thalassemia is one of the most common groups of hereditary haemoglobinopathies. Affected people with thalassemia major are dependent on regular blood transfusion which on the long term leads to iron overload...

    Authors: Parinaz Zarghamian, Azita Azarkeivan, Ali Arabkhazaeli, Ahmad Mardani and Majid Shahabi

    Citation: BMC Medical Genetics 2020 21:75

    Content type: Research article

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  8. PYGL mutations can cause liver phosphorylase deficiency, resulting in a glycogenolysis disorder, namely, glycogen storage disease (GSD) VI. The disease is rarely reported in the Chinese population. GSD VI is main...

    Authors: Xiaomei Luo, Jiacheng Hu, Xueren Gao, Yanjie Fan, Yu Sun, Xuefan Gu and Wenjuan Qiu

    Citation: BMC Medical Genetics 2020 21:74

    Content type: Case report

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  9. Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT deficiency, OMIM #613118) is a relatively rare (1:2000–3000) autosomal-dominant disorder with high risk of venous thromboembolis...

    Authors: Margarita E. Polyak and Elena V. Zaklyazminskaya

    Citation: BMC Medical Genetics 2020 21:73

    Content type: Case report

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  10. Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) and is associated with pathogenic variants in either o...

    Authors: Qi Yang, Hong Xu, Jingsi Luo, Mengting Li, Sheng Yi, Qinle Zhang, Guoxing Geng, Shihan Feng and Xin Fan

    Citation: BMC Medical Genetics 2020 21:72

    Content type: Case report

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  13. The Houge type of X-linked syndromic mental retardation is an X-linked intellectual disability (XLID) recently recorded in the Online Mendelian Inheritance in Man (OMIM) and only 8 cases have been reported in ...

    Authors: Mei Daoqi, Chen Guohong, Wang Yuan, Yang Zhixiao, Xu Kaili and Mei Shiyue

    Citation: BMC Medical Genetics 2020 21:69

    Content type: Case report

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  14. The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal ...

    Authors: Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige and Hideshi Kawakami

    Citation: BMC Medical Genetics 2020 21:68

    Content type: Case report

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  15. Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of XP (XP-A to G and a variant form). XP-E is one of the least common forms, and XP-E patients ar...

    Authors: Rui Yang, Qingtao Kong, Yuanyuan Duan, Weiwei Li and Hong Sang

    Citation: BMC Medical Genetics 2020 21:67

    Content type: Case report

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  16. Ischemic Stroke (IS) is the most common neurological emergency disease and has become the second most frequent cause of death after coronary artery disease in 2015. Owing to its high fatality rate and narrow t...

    Authors: Qizhi Xie, Xiaoyun Zhang, Sijia Peng, Jingjing Sun, Xiao Chen, Yuanfei Deng and Li Yi

    Citation: BMC Medical Genetics 2020 21:66

    Content type: Research article

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  17. Several obesity susceptibility loci in genes, including GNPDA2, SH2B1, TMEM18, MTCH2, CDKAL1, FAIM2, and MC4R, have been identified by genome-wide association studies. The purpose of this study was to investigate...

    Authors: Jing Kang, Ren-Chu Guan, Ying Zhao and Yan Chen

    Citation: BMC Medical Genetics 2020 21:65

    Content type: Research article

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  18. The calcium-selective channel TRPV6 (transient receptor potential cation channel subfamily V member 6) is crucial for maternal-fetal calcium transport across the placenta. TRPV6 mutations have recently been assoc...

    Authors: Anna E. Mason, David Grier, Sarah F. Smithson, Christine P. Burren and Elise Gradhand

    Citation: BMC Medical Genetics 2020 21:64

    Content type: Case report

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  19. Brucellosis is a quite normal zoonotic infection, which is caused by immediate contact with animals infected with Brucella or its products. IL-10 (− 1082 G/A, − 819 C/T, − 592C/A) and IL-6 -174 G/C polymorphis...

    Authors: Xiaochun Jin, Yueyuan Wu, Shuzhou Yin, Xu Chen and Youtao Zhang

    Citation: BMC Medical Genetics 2020 21:63

    Content type: Research article

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  20. To examine the association between lipoprotein(a) (Lp(a)) levels, LPA (rs10455872 and rs3798220) and IL1F9 (rs13415097) single nucleotide polymorphisms (SNPs) with coronary artery calcification (CAC), an importan...

    Authors: Sonali Pechlivanis, Amir A. Mahabadi, Per Hoffmann, Markus M. Nöthen, Martina Broecker-Preuss, Raimund Erbel, Susanne Moebus, Andreas Stang and Karl-Heinz Jöckel

    Citation: BMC Medical Genetics 2020 21:62

    Content type: Research article

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  21. Wolcott-Rallison Syndrome (WRS) is a rare autosomal recessive disease that is the most common cause of neonatal diabetes in consanguineous families. WRS is caused by various genetic alterations of the Eukaryot...

    Authors: Andrea Sümegi, Zoltán Hendrik, Tamás Gáll, Enikő Felszeghy, Katalin Szakszon, Péter Antal-Szalmás, Lívia Beke, Ágnes Papp, Gábor Méhes, József Balla and György Balla

    Citation: BMC Medical Genetics 2020 21:61

    Content type: Research article

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  22. Brachydactyly type A1(BDA-1) is an autosomal dominant disorder which is caused by heterozygous pathogenic variants in a specific region of the N-terminal active fragment of Indian Hedgehog (IHH). The disorder is ...

    Authors: Qi Yang, Jin Wang, Xiaoxian Tian, Fei Shen, Jing Lan, Qiang Zhang, Xin Fan, Shang Yi, Mengting Li and Yiping Shen

    Citation: BMC Medical Genetics 2020 21:60

    Content type: Research article

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  23. Intellectual disability (ID) is both a clinically diverse and genetically heterogeneous group of disorder, with an onset of cognitive impairment before the age of 18 years. ID is characterized by significant l...

    Authors: Muhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, Nuzhat Noureen, Faisal Zafar, Sobiah Rauf, Asif Mir and Henry Houlden

    Citation: BMC Medical Genetics 2020 21:59

    Content type: Research article

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  24. Following publication of the original article [1], the authors flagged that the name of ‘Asal Hojjat’ was misspelled; the name had been spelled as ‘Asal Hojat’.

    Authors: Maryam Sobhani, Mohammad Amin Tabatabaiefar, Soudeh Ghafouri-Fard, Asadollah Rajab, Asal Hojjat, Abdol-Mohammad Kajbafzadeh and Mohammad Reza Noori-Daloii

    Citation: BMC Medical Genetics 2020 21:58

    Content type: Correction

    Published on:

    The original article was published in BMC Medical Genetics 2020 21:13

  27. Glutathione S-transferases play a key role in the detoxification of persistent oxidative stress products which are one of several risks factors that may be associated with many types of disease processes such ...

    Authors: Herman Karim Sombié, Abel Pegdwendé Sorgho, Jonas Koudougou Kologo, Abdoul Karim Ouattara, Sakinata Yaméogo, Albert Théophane Yonli, Florencia Wendkuuni Djigma, Daméhan Tchelougou, Dogfounianalo Somda, Isabelle Touwendpoulimdé Kiendrébéogo, Prosper Bado, Bolni Marius Nagalo, Youssoufou Nagabila, Enagnon Tiémoko Herman Donald Adoko, Patrice Zabsonré, Hassanata Millogo…

    Citation: BMC Medical Genetics 2020 21:55

    Content type: Research article

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  28. The ABCG2 rs2231142 single nucleotide polymorphism (SNP) is one of the most significant genetic variants associated with hyperuricemia (HUA) in Asian populations. However, the risk of ABCG2 rs2231142 variants for...

    Authors: Jia Liu, Wei Yang, Yun Li, Zhanyun Wei and Xiaojuan Dan

    Citation: BMC Medical Genetics 2020 21:54

    Content type: Research article

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  29. Adolescence is a distinctive stage of various changes and is noted as peak age for onset of many psychiatric disorders, especially linked to stress and depression. Several genetic variations are being increasi...

    Authors: Madhumita Ghosh, Akhtar Ali, Shobhna Joshi, Adya Shankar Srivastava and Madhu G. Tapadia

    Citation: BMC Medical Genetics 2020 21:53

    Content type: Research article

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  30. Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal t...

    Authors: Flávia Balsamo, Pedro Augusto Soffner Cardoso, Sergio Aparecido do Amaral Junior, Therésè Rachell Theodoro, Flavia de Sousa Gehrke, Maria Aparecida da Silva Pinhal, Bianca Bianco and Jaques Waisberg

    Citation: BMC Medical Genetics 2020 21:52

    Content type: Case report

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  31. The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal r...

    Authors: Wen-Cong Ruan, Jia Wang, Yong-Lin Yu, Yue-Ping Che, Li Ding, Chen-Xi Li, Xiao-Dong Wang and Hai-Feng Li

    Citation: BMC Medical Genetics 2020 21:51

    Content type: Case report

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  32. Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway. In several studies P...

    Authors: Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, Kalpana Gowrishankar, Sanjeeva Ghanti Narayanachar, Vinuth Puttamallesh, Mohammed Oomer Farooque and Swathi Shetty

    Citation: BMC Medical Genetics 2020 21:50

    Content type: Research article

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  33. This study wants to know the genetic cause of preeclampsia (PE) which is a leading cause of maternal and perinatal death, but the underlying molecular mechanisms that cause PE remain poorly understood. Many si...

    Authors: Lin Zhang, Zheng Cao, Fan Feng, Ya-Nan Xu, Lin Li and Hong Gao

    Citation: BMC Medical Genetics 2020 21:49

    Content type: Research article

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  35. Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement disorders and acanthocytosis in the peripheral blood smears, and various neurological, neuropsychiatric and neuromusc...

    Authors: Fatima Ouchkat, Wafaa Regragui, Imane Smaili, Hajar Naciri Darai, Naima Bouslam, Mounia Rahmani, Adyl Melhaoui, Yasser Arkha, Elmostafa El Fahime and Ahmed Bouhouche

    Citation: BMC Medical Genetics 2020 21:47

    Content type: Case report

    Published on:

  37. Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neurological disorders. A growing number of genes, involved in glial and neuronal functions, have been associated with different subtypes...

    Authors: Gerrit M. Grosse, Christine Bauer, Bruno Kopp, Christoph Schrader and Alma Osmanovic

    Citation: BMC Medical Genetics 2020 21:45

    Content type: Research article

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  38. Abnormal calcium homeostasis related to the development of hypertension. As the key regulator of intracellular calcium concentration, voltage-dependent calcium channels (VDCCs), the variations in these genes m...

    Authors: Lifan Huang, Yan Chu, Xiaoqin Huang, Shaohui Ma, Keqin Lin, Kai Huang, Hao Sun and Zhaoqing Yang

    Citation: BMC Medical Genetics 2020 21:44

    Content type: Research article

    Published on:

  39. Individuals with δβ-thalassemia/HPFH and β-thalassemia usually present with intermedia or thalassemia major. No large-scale survey on HPFH/δβ-thalassemia in southern China has been reported to date. The purpos...

    Authors: Fan Jiang, Liandong Zuo, Dongzhi Li, Jian Li, Xuewei Tang, Guilan Chen, Jianying Zhou, Hang Lu and Can Liao

    Citation: BMC Medical Genetics 2020 21:43

    Content type: Research article

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  40. von Hippel-Lindau (VHL) disease is a familial neoplasia syndrome that results from the germline mutation of VHL. Pathogenic VHL mutations include deletion, frameshift, nonsense and missense mutations. Synonymous ...

    Authors: Fang Liu, Barbara Calhoun, Md. Suhail Alam, Miaomiao Sun, Xuechun Wang, Chao Zhang, Kasturi Haldar and Xin Lu

    Citation: BMC Medical Genetics 2020 21:42

    Content type: Case report

    Published on:

  41. ABO gene polymorphisms have been reported to be associated with the risk of multiple cancers and cardiocerebrovascular diseases. However, the results remained controversial. In this study, we conducted a syste...

    Authors: Yanxia Li, Luyang Liu, Yubei Huang, Hong Zheng and Lian Li

    Citation: BMC Medical Genetics 2020 21:41

    Content type: Research article

    Published on:

  42. Sarcopenia is a skeletal muscle disease of clinical importance that occurs commonly in old age and in various disease sub-categories. Widening the scope of knowledge of the genetics of muscle mass and strength...

    Authors: Abhishek Narain Singh and Bili Gasman

    Citation: BMC Medical Genetics 2020 21:40

    Content type: Research article

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  43. Following publication of the original article [1], the authors have flagged that the article has published with an error in the order of the affiliations.

    Authors: S. Razak, N. Bibi, J. A. Dar, T. Afsar, A. Almajwal, Z. Parveen and S. Jahan

    Citation: BMC Medical Genetics 2020 21:39

    Content type: Correction

    Published on:

    The original article was published in BMC Medical Genetics 2019 20:171

  44. Prune belly syndrome (PBS) is a rare, multi-system congenital myopathy primarily affecting males that is poorly described genetically. Phenotypically, its morbidity spans from mild to lethal, however, all isol...

    Authors: Nida S. Iqbal, Thomas A. Jascur, Steven M. Harrison, Angelena B. Edwards, Luke T. Smith, Erin S. Choi, Michelle K. Arevalo, Catherine Chen, Shaohua Zhang, Adam J. Kern, Angela E. Scheuerle, Emma J. Sanchez, Chao Xing and Linda A. Baker

    Citation: BMC Medical Genetics 2020 21:38

    Content type: Research article

    Published on:

  45. The Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (OMIM 253200) is an autosomal recessive lysosomal disorder, caused by the deficiency of the enzyme N-acetylgalactosamine 4-sulf...

    Authors: Rachel Sayuri Honjo, Evelyn Cristina Nuñez Vaca, Gabriela Nunes Leal, Deipara Monteiro Abellan, Nana Miura Ikari, Marcelo Biscegli Jatene, Ana Maria Martins and Chong Ae Kim

    Citation: BMC Medical Genetics 2020 21:37

    Content type: Case report

    Published on:

  46. Rs4977574 (A > G) and Rs1333045 (C > T) are both single nucleotide polymorphisms (SNPs) related with coronary artery disease, locating on chromosome 9p21.3. The study aimed to identify the correlation between ...

    Authors: Lei Hua, Jin-Xia Yuan, Shu He, Chen-Hui Zhao, Qiao-Wei Jia, Jing Zhang, Feng-Hui An, Zhao-Hong Chen, Li-Hua Li, Lian-Sheng Wang, Wen-Zhu Ma, Guang-Xu Xu and En-Zhi Jia

    Citation: BMC Medical Genetics 2020 21:36

    Content type: Research article

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  47. We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity.

    Authors: Parvathy Venugopal, Lucia Gagliardi, Cecily Forsyth, Jinghua Feng, Kerry Phillips, Milena Babic, Nicola K. Poplawski, Hugh Young Rienhoff Jr, Andreas W. Schreiber, Christopher N. Hahn, Anna L. Brown and Hamish S. Scott

    Citation: BMC Medical Genetics 2020 21:35

    Content type: Research article

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  48. Epigenetics could facilitate greater understanding of disparities in the emergence of childhood obesity. While blood is a common tissue used in human epigenetic studies, saliva is a promising tissue. Our prior...

    Authors: Amanda Rushing, Evan C. Sommer, Shilin Zhao, Eli K. Po’e and Shari L. Barkin

    Citation: BMC Medical Genetics 2020 21:34

    Content type: Research article

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  49. Tudor domain-containing proteins (TDRDs) play a critical role in piRNA biogenesis and germ cell development. piRNAs, small regulatory RNAs, act by silencing of transposons during germline development and it ha...

    Authors: Emad Babakhanzadeh, Ali Khodadadian, Saadi Rostami, Iraj Alipourfard, Mohsen Aghaei, Majid Nazari, Mehdi Hosseinnia, Mohammad Yahya Vahidi Mehrjardi, Yalda Jamshidi and Nasrin Ghasemi

    Citation: BMC Medical Genetics 2020 21:33

    Content type: Research article

    Published on:

  50. The involvement of cytokines in pathogenesis of pseudoexfoliation syndrome and glaucoma has been demonstrated in several studies. The aim of the present study was to explore the association between three promo...

    Authors: Ghasem Fakhraie, Farshid Parvini, Jalaledin Ghanavi, Shima Saif and Poopak Farnia

    Citation: BMC Medical Genetics 2020 21:32

    Content type: Research article

    Published on:

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