Lin, Xiaoping Ma, Yuankun Cai, Zhejun Wang, Qiyuan Wang, Lihua Huo, Zhaoxia Hu, Dan Wang, Jian’an Xiang, Meixiang
Published in
BMC Cardiovascular Disorders
BackgroundArrhythmogenic cardiomyopathy (AC) is one of the leading causes for sudden cardiac death (SCD). Recent studies have identified mutations in cardiac desmosomes as key players in the pathogenesis of AC. However, the specific etiology in individual families remains largely unknown.MethodsA 4-generation family presenting with syncope, lethal ...
Reiner, Gerald Tramberend, Kirsten Nietfeld, Florian Volmer, Klaus Wurmser, Christine Fries, Ruedi Willems, Hermann
Published in
BMC Genetics
BackgroundRed deer with very pale coat colour are observed sporadically. In the red deer (Cervus elaphus) population of Reinhardswald in Germany, about 5% of animals have a white coat colour that is not associated with albinism. In order to facilitate the conservation of the animals, it should be determined whether and to what extent brown animals ...
Karavina, Charles Ibaba, Jacques Davy Gubba, Augustine
Published in
BMC Research Notes
ObjectivesPlant-infecting viruses remain a serious challenge towards achieving food security worldwide. Cucurbit virus surveys were conducted in Zimbabwe during the 2014 and 2015 growing seasons. Leaf samples displaying virus-like symptoms were collected and stored until analysis. Three baby marrow samples were subjected to next-generation sequenci...
Georgescu, Maria-Magdalena Olar, Adriana
Published in
Acta Neuropathologica Communications
Glioblastoma is the most frequent and aggressive primary brain tumor, characterized by extensive brain invasion and rarely, systemic metastases. The pathogenesis of metastatic glioblastoma is largely unknown. We present the first integrated clinical/histologic/genetic analysis of 5 distinct brain and lung foci from a unique case of recurrent, multi...
Ruiz-Cordero, Roberto Ma, Junsheng Khanna, Abha Lyons, Genevieve Rinsurongkawong, Waree Bassett, Roland Guo, Ming Routbort, Mark J. Zhang, Jianjun Skoulidis, Ferdinandos
...
Published in
BMC Cancer
BackgroundGene expression profiling has consistently identified three molecular subtypes of lung adenocarcinoma that have prognostic implications. To facilitate stratification of patients with this disease into similar molecular subtypes, we developed and validated a simple, mutually exclusive classification.MethodsMutational status of EGFR, KRAS, ...
Chiniquy, Jennifer Garber, Megan E. Mukhopadhyay, Aindrila Hillson, Nathan J.
Published in
BMC Genomics
BackgroundNext generation sequencing (NGS) has become a universal practice in modern molecular biology. As the throughput of sequencing experiments increases, the preparation of conventional multiplexed libraries becomes more labor intensive. Conventional library preparation typically requires quality control (QC) testing for individual libraries s...
Yu, Xiaoyu Lin, Yun Xu, Jun Che, Tuanjie Li, Lin Yang, Tao Wu, Hao
Published in
Orphanet Journal of Rare Diseases
BackgroundRecessive mutations in GJB2 is the most common cause of genetic hearing loss worldwide. The aim of this study is to determine the spectrum and frequency of GJB2 variants in Chinese Han deaf patients and to investigate the underlying causative genes in patients with mono-allelic GJB2 mutations.MethodsWe analyzed the mutation screening resu...
Sholder, Gabriel Lanz, Thomas A. Moccia, Robert Quan, Jie Aparicio-Prat, Estel Stanton, Robert Xi, Hualin S.
Published in
BMC Genomics
BackgroundThe advent of Next Generation Sequencing has allowed transcriptomes to be profiled with unprecedented accuracy, but the high costs of full-length mRNA sequencing have posed a limit on the accessibility and scalability of the technology. To address this, we developed 3’Pool-seq: a simple, cost-effective, and scalable RNA-seq method that fo...
Rieneck, Klaus Egeberg Hother, Christoffer Clausen, Frederik Banch Jakobsen, Marianne Antonius Bergholt, Thomas Hellmuth, Ellinor Grønbeck, Lene Dziegiel, Morten Hanefeld
Published in
Transfusion Medicine and Hemotherapy
Introduction: ABO blood group incompatibility between a pregnant woman and her fetus as a cause of morbidity or mortality of the fetus or newborn remains an important, albeit rare, risk. When a pregnant woman has a high level of anti-A or anti-B IgG antibodies, the child may be at risk for hemolytic disease of the fetus and newborn (HDFN). Performi...
Xu, Ancong Zhu, Hong Gao, Bingqi Weng, Haixu Ding, Zhangna Li, Mianmian Weng, Xing He, Guoxin
Published in
BMC Infectious Diseases
BackgroundAcinetobacter baumannii is a gram-negative aerobic bacillus that is commonly causes of hospital-acquired infections. Community-acquired pneumonia caused by Acinetobacter baumannii (CAP-Ab) is rare but fatal if diagnosis and treatment are delayed. Conventional culture of clinical specimens is the main method for clinical diagnosis of A. ba...
