Skip to main content

Articles

Page 1 of 33

  1. Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited vascular disorder characterized by recurrent epistaxis, skin/mucocutaneous telangiectasia, and organ/visceral arteriovenous malformations (...

    Authors: Kana Kitayama, Tomoya Ishiguro, Masaki Komiyama, Takayuki Morisaki, Hiroko Morisaki, Gaku Minase, Kohei Hamanaka, Satoko Miyatake, Naomichi Matsumoto, Masaru Kato, Toru Takahashi and Tohru Yorifuji

    Citation: BMC Medical Genomics 2021 14:288

    Content type: Research

    Published on:

  2. Although great efforts have been made to study the occurrence and development of glioma, the molecular mechanisms of glioma are still unclear. Single-cell sequencing technology provides a new perspective for r...

    Authors: Guimin Qin, Longting Du, Yuying Ma, Yu Yin and Liming Wang

    Citation: BMC Medical Genomics 2021 14:287

    Content type: Technical advance

    Published on:

  3. Non-small cell lung cancer (NSCLC) is the most prevalent type of lung carcinoma with an unfavorable prognosis. Ferroptosis is involved in the development of multiple cancers. Whereas, the prognostic value of f...

    Authors: Meng Li, Yanpeng Zhang, Meng Fan, Hui Ren, Mingwei Chen and Puyu Shi

    Citation: BMC Medical Genomics 2021 14:286

    Content type: Research

    Published on:

  4. Ovarian serous cystadenocarcinoma is one of the most serious gynecological malignancies. Circular RNA (circRNA) is a type of noncoding RNA with a covalently closed continuous loop structure. Abnormal circRNA e...

    Authors: Minhui Zhuang, Jian Zhao, Jing Wu, Shilong Fu, Ping Han and Xiaofeng Song

    Citation: BMC Medical Genomics 2021 14(Suppl 2):276

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 14 Supplement 2

  5. While most differential coexpression (DC) methods are bound to quantify a single correlation value for a gene pair across multiple samples, a newly devised approach under the name Correlation by Individual Lev...

    Authors: Hui Yu, Limei Wang, Danqian Chen, Jin Li and Yan Guo

    Citation: BMC Medical Genomics 2021 14(Suppl 2):101

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 14 Supplement 2

  6. Multi-sample comparison is commonly used in cancer genomics studies. By using next-generation sequencing (NGS), a mutation's status in a specific sample can be measured by the number of reads supporting mutant...

    Authors: Nicholas Hutson, Fenglin Zhan, James Graham, Mitsuko Murakami, Han Zhang, Sujana Ganaparti, Qiang Hu, Li Yan, Changxing Ma, Song Liu, Jun Xie and Lei Wei

    Citation: BMC Medical Genomics 2021 14(Suppl 2):32

    Content type: Software

    Published on:

    This article is part of a Supplement: Volume 14 Supplement 2

  7. We previously identified differentially expressed genes on the basis of false discovery rate adjusted P value using empirical Bayes moderated tests. However, that approach yielded a subset of differentially expre...

    Authors: Eliezer Bose, Elijah Paintsil and Musie Ghebremichael

    Citation: BMC Medical Genomics 2021 14:285

    Content type: Research

    Published on:

  8. Three genes clustered together on chromosome 12 comprise a group of hydroxycarboxylic acid receptors (HCARs): HCAR1, HCAR2, and HCAR3. These paralogous genes encode different G-protein coupled receptors responsib...

    Authors: Cierla McGuire Sams, Kasey Shepp, Jada Pugh, Madison R. Bishop and Nancy D. Merner

    Citation: BMC Medical Genomics 2021 14:284

    Content type: Research article

    Published on:

  9. Chronic chagasic cardiomyopathy (CCC) is the leading cause of heart failure in Latin America and often causes severe inflammation and fibrosis in the heart. Studies on myocardial function and its molecular mec...

    Authors: Jiahe Wu, Jianlei Cao, Yongzhen Fan, Chenze Li and Xiaorong Hu

    Citation: BMC Medical Genomics 2021 14:283

    Content type: Research

    Published on:

  10. Cancer metastasis into distant organs is an evolutionarily selective process. A better understanding of the driving forces endowing proliferative plasticity of tumor seeds in distant soils is required to devel...

    Authors: Michael Skaro, Marcus Hill, Yi Zhou, Shannon Quinn, Melissa B. Davis, Andrea Sboner, Mandi Murph and Jonathan Arnold

    Citation: BMC Medical Genomics 2021 14:281

    Content type: Technical advance

    Published on:

  11. Incidence of testicular cancer is highest among young adults and has been increasing dramatically for men born since 1945. This study aimed to elucidate the factors driving this trend by investigating differen...

    Authors: Nicole E. Mealey, Dylan E. O’Sullivan, Cheryl E. Peters, Daniel Y. C. Heng and Darren R. Brenner

    Citation: BMC Medical Genomics 2021 14:280

    Content type: Research article

    Published on:

  12. Hand, foot and mouth disease (HFMD) is caused by a variety of enterovirus serotypes and the etiological spectrum worldwide has changed since a large scale of outbreaks occurred in 1997.

    Authors: Yuting Yu, Zhiyu Luo, Weiping Jin, Jianyi Mai, Shasha Qian, Jia Lu, Zhenni Wei, Shengli Meng, Zejun Wang, Xuhua Guan, Yeqing Tong and Shuo Shen

    Citation: BMC Medical Genomics 2021 14:279

    Content type: Research article

    Published on:

  13. Recurrent spontaneous abortion (RSA) is one of the common complication of pregnancy, bringing heavy burden to the patients and their families. The study aimed to explore the lncRNA-miRNA-mRNA network associate...

    Authors: Yong Huang, Jiayuan Hao, Yuan Liao, Lihua Zhou, Kaiju Wang, Hui Zou, Ying Hu and Juan Li

    Citation: BMC Medical Genomics 2021 14:278

    Content type: Research article

    Published on:

  14. Mutations in the Forkhead Box C1 (FOXC1) are known to cause autosomal dominant hereditary Axenfeld-Rieger syndrome, which is a genetic disorder characterized by ocular and systemic features including glaucoma, va...

    Authors: Rui Wang, Wei-Qian Wang, Xiao-Qin Li, Juan Zhao, Kun Yang, Yong Feng, Meng-Meng Guo, Min Liu, Xing Liu, Xi Wang, Yong-Yi Yuan, Xue Gao and Jin-Cao Xu

    Citation: BMC Medical Genomics 2021 14:277

    Content type: Research

    Published on:

  15. Relative haplotype dosage (RHDO) approach has been applied in noninvasive prenatal diagnosis (NIPD) of Duchenne muscular dystrophy (DMD). However, the RHDO procedure is relatively complicated and the parental ...

    Authors: Ganye Zhao, Xiaofeng Wang, Lina Liu, Peng Dai and Xiangdong Kong

    Citation: BMC Medical Genomics 2021 14:275

    Content type: Research

    Published on:

  16. This study investigated whether single nucleotide polymorphisms (SNPs) reported by previous genome-wide association studies (GWAS) to be associated with impaired insulin secretion, insulin resistance, and/or t...

    Authors: Rashmi B. Prasad, Karl Kristensen, Anastasia Katsarou and Nael Shaat

    Citation: BMC Medical Genomics 2021 14:274

    Content type: Research

    Published on:

  17. Circulating tumor cells (CTCs) are the critical initiators of distant metastasis formation. In which, the reciprocal interplay among different metastatic pathways and their metastasis driver genes which promot...

    Authors: Samane Khoshbakht, Sadegh Azimzadeh Jamalkandi and Ali Masudi-Nejad

    Citation: BMC Medical Genomics 2021 14:273

    Content type: Research article

    Published on:

  18. Single-cell sequencing approaches allow gene expression to be measured at the single-cell level, providing opportunities and challenges to study the aetiology of complex diseases, including cancer.

    Authors: Qiuyan Huo, Yu Yin, Fangfang Liu, Yuying Ma, Liming Wang and Guimin Qin

    Citation: BMC Medical Genomics 2021 14(Suppl 5):263

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 14 Supplement 5

  19. Developing efficient and successful computational methods to infer potential miRNA-disease associations is urgently needed and is attracting many computer scientists in recent years. The reason is that miRNAs ...

    Authors: Van Tinh Nguyen, Thi Tu Kien Le, Tran Quoc Vinh Nguyen and Dang Hung Tran

    Citation: BMC Medical Genomics 2021 14(Suppl 3):225

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 14 Supplement 3

  20. Skeletal dysplasia (SD) is one of the most common inherited neonatal disorders worldwide, where the recurrent pathogenic mutations in the FGFR2, FGFR3, COL1A1, COL1A2 and COL2A1 genes are frequently reported in b...

    Authors: Ching-Yuan Wang, Yen-An Tang, I-Wen Lee, Fong-Ming Chang, Chun-Wei Chien, Hsien-An Pan and H. Sunny Sun

    Citation: BMC Medical Genomics 2021 14(Suppl 3):212

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 14 Supplement 3

  21. The genetic association studies of type 2 diabetes mellitus (T2DM) hitherto undertaken among the Indian populations are grossly inadequate representation of the ethnic and geographic heterogeneity of the count...

    Authors: Kumuda Irgam, Battini Sriteja Reddy, Sai Gayathri Hari, Swathi Banapuram and Battini Mohan Reddy

    Citation: BMC Medical Genomics 2021 14:272

    Content type: Research

    Published on:

  22. Co-expression network may contribute to better understanding molecular interaction patterns underlying cellular processes. To explore microRNAs (miRNAs) expression patterns correlated with AF, we performed wei...

    Authors: Qiang Qu, Jin-Yu Sun, Zhen-Ye Zhang, Yue Su, Shan-Shan Li, Feng Li and Ru-Xing Wang

    Citation: BMC Medical Genomics 2021 14:271

    Content type: Research

    Published on:

  23. Coffin–Siris syndrome (CSS) is a multiple malformation syndrome characterized by intellectual disability associated with coarse facial features, hirsutism, sparse scalp hair, and hypoplastic or absent fifth fi...

    Authors: Guanting Lu, Qiongling Peng, Lianying Wu, Jian Zhang and Liya Ma

    Citation: BMC Medical Genomics 2021 14:270

    Content type: Research article

    Published on:

  24. As the number of COVID-19 deaths continues to rise worldwide, the identification of risk factors for the disease is an urgent issue, and it remains controversial whether atherogenic lipid-related traits includ...

    Authors: Masahiro Yoshikawa, Kensuke Asaba and Tomohiro Nakayama

    Citation: BMC Medical Genomics 2021 14:269

    Content type: Research

    Published on:

  25. Xinjiang is one of the regions with a high incidence of cervical cancer, and the genetic variation of human papillomavirus may increase its ability to infect the human body and enhance virus-mediated immune es...

    Authors: Luyue Wang, Fang Wang, Shaowei Fu, Chunhe Zhang, Xiangyi Zhe, Hongtao Li, Dongmei Li, Renfu Shao and Zemin Pan

    Citation: BMC Medical Genomics 2021 14:268

    Content type: Research

    Published on:

  26. Genetic polymorphisms in the PPARD and NOS1AP is associated with type 2 diabetes mellitus (T2DM); however, there is no evidence about its impact on the therapeutic efficacy of nateglinide. This study was designed...

    Authors: Tao Wang, Jin-Fang Song, Xue-Yan Zhou, Cheng-Lin Li, Xiao-Xing Yin and Qian Lu

    Citation: BMC Medical Genomics 2021 14:267

    Content type: Research

    Published on:

  27. Nephrolithiasis (NL) affects 1 in 11 individuals worldwide and causes significant morbidity and cost. Common variants in the calcium sensing receptor gene (CaSR) have been associated with NL. Rare inactivating Ca...

    Authors: Ihsan Ullah, Isabel Ottlewski, Wasim Shehzad, Amjad Riaz, Sadaqat Ijaz, Asad Tufail, Hafiza Ammara, Shrikant Mane, Shirlee Shril, Friedhelm Hildebrandt, Muhammad Yasir Zahoor and Amar J. Majmundar

    Citation: BMC Medical Genomics 2021 14:266

    Content type: Research

    Published on:

  28. It has been reported that dietary fats and genetic factors in individuals are associated with the pattern of fat distribution. This study aimed to evaluate the interaction between dietary fats intake and Caveolin...

    Authors: Yasaman Aali, Farideh Shiraseb, Faezeh Abaj, Fariba koohdani and Khadijeh Mirzaei

    Citation: BMC Medical Genomics 2021 14:265

    Content type: Research

    Published on:

  29. Osteopetrosis is a genetically heterogenous, fatal bone disorder characterized by increased bone density. Globally, various genetic causes are reported for osteopetrosis with all forms of inheritance patterns....

    Authors: Chunyu Liu, Muhammad Ajmal, Zaineb Akram, Tariq Ghafoor, Muhammad Farhan, Sobia Shafique, Sughra Wahid, Shahar Bano, Jianqiu Xiao, Humayoon Shafique Satti, Feng Zhang and Tahir Naeem Khan

    Citation: BMC Medical Genomics 2021 14:264

    Content type: Research

    Published on:

  30. Cystic fibrosis (CF) is an autosomal recessive disorder caused by pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CF variants incidence is highly variable and even ...

    Authors: Consuelo Cantú-Reyna, Roberto Galindo-Ramírez, Mercedes Vázquez-Cantú, Lorenza Haddad-Talancón and Willebaldo García-Muñoz

    Citation: BMC Medical Genomics 2021 14:262

    Content type: Research article

    Published on:

  31. Birth defects pose a major challenge to infant health. Thus far, however, the causes of most birth defects remain cryptic. Over the past few decades, considerable effort has been expended on disclosing the und...

    Authors: Dengwei Zhang, Si Zhou, Ziheng Zhou, Xiaosen Jiang, Dongsheng Chen, Hai-Xi Sun, Jie Huang, Shoufang Qu, Songchen Yang, Ying Gu, Xiuqing Zhang, Xin Jin, Ya Gao, Yue Shen and Fang Chen

    Citation: BMC Medical Genomics 2021 14:260

    Content type: Database

    Published on:

  32. Pachyonychia congenita (PC, OMIM #167200, #167210, #615726, #615728, and #615735) is a rare autosomal dominant disorder caused by keratin gene mutations in KRT6A,KRT6B,KRT6C,KRT16 or KRT17. It is characterized wi...

    Authors: Yue Li, Yumeng Wang, Yan Ming, Pan Chaolan, Zhang Jia, Ni Cheng, Cao Qiaoyu, Ming Li and Xu Tianyi

    Citation: BMC Medical Genomics 2021 14:259

    Content type: Case report

    Published on:

  33. We previously reported that expression of a miR-138 mimic or knockdown of SIN3A in primary cultures of cystic fibrosis (CF) airway epithelia increased ΔF508-CFTR mRNA and protein levels, and partially restored CF...

    Authors: Matthew D. Strub, Long Gao, Kai Tan and Paul B. McCray Jr.

    Citation: BMC Medical Genomics 2021 14:258

    Content type: Research article

    Published on:

  34. Type 2 Diabetes (T2D) is the result of a combination of genes and environment. The identified genetic loci can only explain part of T2D risk. Our study is aimed to explore the association between CTNNA3 single...

    Authors: Yunjun Zhang, Xiaoman Zhou, Wanjuan Dai, Juan Sun, Mei Lin, Yutian Zhang and Yipeng Ding

    Citation: BMC Medical Genomics 2021 14:257

    Content type: Research

    Published on:

  35. Lethal respiratory failure is primarily caused by a deficiency of pulmonary surfactant, and is the main cause of neonatal death among preterm infants. Pulmonary surfactant metabolism dysfunction caused by vari...

    Authors: Weifeng Zhang, Zhiyong Liu, Yiming Lin, Ruiquan Wang, Jinglin Xu, Ying He, Fengfeng Zhang, Lianqiang Wu and Dongmei Chen

    Citation: BMC Medical Genomics 2021 14:256

    Content type: Research

    Published on:

  36. Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant hereditary disease characterized primarily by maldevelopment of the anterior segment of both eyes, accompanied by developmental glaucoma, and other c...

    Authors: Kaiming Li, Min Tang, Manhua Xu and Yinggui Yu

    Citation: BMC Medical Genomics 2021 14:255

    Content type: Case report

    Published on:

  37. The switch/sucrose nonfermenting (SWI/SNF) complex is an adenosine triphosphate-dependent chromatin-remodeling complex associated with the regulation of DNA accessibility. Germline mutations in the components ...

    Authors: Yena Lee, Yunha Choi, Go Hun Seo, Gu-Hwan Kim, Changwon Keum, Yoo-Mi Kim, Hyo-Sang Do, Jeongmin Choi, In Hee Choi, Han-Wook Yoo and Beom Hee Lee

    Citation: BMC Medical Genomics 2021 14:254

    Content type: Research

    Published on:

  38. Prescription opioids (POs) are commonly used to treat moderate to severe chronic pain in the health system setting. Although they improve quality of life for many patients, more work is needed to identify both...

    Authors: Vanessa Troiani, Richard C. Crist, Glenn A. Doyle, Thomas N. Ferraro, Donielle Beiler, Stephanie Ranck, Kortney McBryan, Margaret A. Jarvis, Jordan S. Barbour, John J. Han, Ryan J. Ness, Wade H. Berrettini and Janet D. Robishaw

    Citation: BMC Medical Genomics 2021 14:253

    Content type: Study protocol

    Published on:

  39. Mutations in the ADAMTS13 gene can lead to an ADAMTS13 enzyme deficiency, which is related to Upshaw–Schulman syndrome (USS). USS is a common type of thrombotic thrombocytopenic purpura (TTP). Here we present a v...

    Authors: Pengzhu Li, Jie Jiang, Qiong Xi and Zuocheng Yang

    Citation: BMC Medical Genomics 2021 14:252

    Content type: Case report

    Published on:

  40. Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy characterized by different genetic alterations that cause changes in the normal mechanisms of differentiation, which are associated with c...

    Authors: Irma Olarte Carrillo, Anel Irais García Laguna, Adrián De la Cruz Rosas, Christian Omar Ramos Peñafiel, Juan Collazo Jaloma and Adolfo Martínez Tovar

    Citation: BMC Medical Genomics 2021 14:251

    Content type: Research

    Published on:

  41. Pathogenic variants of PAX2 cause autosomal-dominant PAX2-related disorder, which includes variable phenotypes ranging from renal coloboma syndrome (RCS), congenital anomalies of the kidney and urinary tract (CAK...

    Authors: Xue Yang, Yaqi Li, Ye Fang, Hua Shi, Tianchao Xiang, Jiaojiao Liu, Jialu Liu, Xiaoshan Tang, Xiaoyan Fang, Jing Chen, Yihui Zhai, Qian Shen, Yunli Bi, Yanyan Qian, Bingbing Wu, Huijun Wang…

    Citation: BMC Medical Genomics 2021 14:250

    Content type: Research

    Published on:

  42. Diabetes mellitus (DM) is a complex metabolic disease that is caused by a complex interplay between genetic and environmental factors. This research aimed to investigate the association of genetic polymorphism...

    Authors: Ning Wang, Rui Tong, Jing Xu, Yanni Tian, Juan Pan, Jiaqi Cui, Huan Chen, Yanqi Peng, Sijia Fei, Shujun Yang, Lu Wang, Juanchuan Yao and Wei Cui

    Citation: BMC Medical Genomics 2021 14:249

    Content type: Research

    Published on:

  43. Postoperative delirium (POD) and postoperative cognitive dysfunction (POCD) are frequent and serious complications after surgery. We aim to investigate the association between genetic variants in cholinergic c...

    Authors: Maria Heinrich, Miriam Sieg, Jochen Kruppa, Peter Nürnberg, Peter H. Schreier, Stefanie Heilmann-Heimbach, Per Hoffmann, Markus M. Nöthen, Jürgen Janke, Tobias Pischon, Arjen J. C. Slooter, Georg Winterer and Claudia D. Spies

    Citation: BMC Medical Genomics 2021 14:248

    Content type: Research

    Published on:

  44. Macular corneal dystrophy (MCD) is a rare corneal stromal dystrophy with bilateral progressive vision loss. The pathogenic gene of MCD is carbohydrate sulfotransferase 6 (CHST6). Herein, we report a novel missens...

    Authors: Dewei Li, Le Tian, Xiaochuan Wang and Min Chen

    Citation: BMC Medical Genomics 2021 14:247

    Content type: Research article

    Published on:

  45. The incidence of colorectal cancer (CRC) has increased during recent years in Iran and other developing countries. Clinical studies suggest that essential folate dietary intake and moderate deficiency of methy...

    Authors: Mahla Ghorbani, Marjan Azghandi, Reza Khayami, Javad Baharara and Mohammad Amin Kerachian

    Citation: BMC Medical Genomics 2021 14:246

    Content type: Research

    Published on:

  46. Ductal adenocarcinoma and neuroendocrine cancer are rare subtypes of prostate cancer with poor prognosis and limited therapeutic options. We present the first case of ductal adenocarcinoma having a neuroendocr...

    Authors: Hiroaki Kobayashi, Takeo Kosaka, Kohei Nakamura, Kazunori Shojo, Hiroshi Hongo, Shuji Mikami, Hiroshi Nishihara and Mototsugu Oya

    Citation: BMC Medical Genomics 2021 14:245

    Content type: Case report

    Published on:

  47. Congenital heart disease (CHD) is one of the most common birth defects. Copy number variations (CNVs) have been proved to be important genetic factors that contribute to CHD. Here we screened genome-wide CNVs ...

    Authors: Xingyu Zhang, Bo Wang, Guoling You, Ying Xiang, Qihua Fu, Yongguo Yu and Xiaoqing Zhang

    Citation: BMC Medical Genomics 2021 14:243

    Content type: Research article

    Published on:

  48. Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions. Herein, we reported a Chinese patient carrying a new va...

    Authors: Chunyan Chen, Jiong Gao, Qing Lv, Chen Xu, Yu Xia and Ailian Du

    Citation: BMC Medical Genomics 2021 14:242

    Content type: Case report

    Published on:

Annual Journal Metrics