From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases [0.03%]
从个案研究到社区知识库：MSeqDR 为线粒体疾病的整理和基因组分析提供平台
Marni J Falk,Lishuang Shen,Xiaowu Gai
Marni J Falk
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy [0.03%]
TMEM87B基因潜在有害变异在2q13微缺失半合子患者中的发现提示一种以先天性心脏病和限制性心肌病为特征的常染色体隐性疾病
Hung-Chun Yu,Curtis R Coughlin,Elizabeth A Geiger et al.
Hung-Chun Yu et al.
Restrictive cardiomyopathy (RCM) is a rare cause of heart muscle disease with the highest mortality rate among cardiomyopathy types. The etiology of RCM is poorly understood, although genetic causes have been implicated, and syndromic assoc...
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease [0.03%]
线粒体加工肽酶-α蛋白的底物结合甘氨酸丰富环结构域突变引起严重线粒体疾病
Mugdha Joshi,Irina Anselm,Jiahai Shi et al.
Mugdha Joshi et al.
We describe a large Lebanese family with two affected members, a young female proband and her male cousin, who had multisystem involvement including profound global developmental delay, severe hypotonia and weakness, respiratory insufficien...
Integrated clinical, whole-genome, and transcriptome analysis of multisampled lethal metastatic prostate cancer [0.03%]
整合临床、全基因组和转录组的多样本致命性转移性前列腺癌分析
G Steven Bova,Heini M L Kallio,Matti Annala et al.
G Steven Bova et al.
We report the first combined analysis of whole-genome sequence, detailed clinical history, and transcriptome sequence of multiple prostate cancer metastases in a single patient (A21). Whole-genome and transcriptome sequence was obtained fro...
Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A [0.03%]
MAN1B1和SEC23A双等位基因突变相关的体细胞过度生长
Swati Gupta,Somayyeh Fahiminiya,Tracy Wang et al.
Swati Gupta et al.
Using whole-exome sequencing, we identified homozygous mutations in two unlinked genes, SEC23A c.1200G>C (p.M400I) and MAN1B1 c.1000C>T (p.R334C), associated with congenital birth defects in two patients from a consanguineous family. Patien...
Elaine R Mardis
Elaine R Mardis
Katayoon Kasaian,Sam M Wiseman,Blair A Walker et al.
Katayoon Kasaian et al.
Medullary thyroid cancer (MTC) is a malignancy of the calcitonin-producing parafollicular cells of the thyroid gland. Surgery is the only curative treatment for this cancer. External beam radiation therapy is reserved for adjuvant treatment...
A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay [0.03%]
5号和16号染色体平衡易位是两性畸形、特殊面容、智力障碍及语言发育迟缓综合征的致病原因
Ayşegül Ozantürk,Erica E Davis,Aniko Sabo et al.
Ayşegül Ozantürk et al.
Genetic studies grounded on monogenic paradigms have accelerated both gene discovery and molecular diagnosis. At the same time, complex genomic rearrangements are also appreciated as potent drivers of disease pathology. Here, we report two ...
Molecular etiology of an indolent lymphoproliferative disorder determined by whole-genome sequencing [0.03%]
全基因组测序确定的进展缓慢的淋巴增生性疾病的分子病因学
Jeremy D K Parker,Yaoqing Shen,Erin Pleasance et al.
Jeremy D K Parker et al.
In an attempt to assess potential treatment options, whole-genome and transcriptome sequencing were performed on a patient with an unclassifiable small lymphoproliferative disorder. Variants from genome sequencing were prioritized using a c...
Molecular analysis of a male breast cancer patient with prolonged stable disease under mTOR/PI3K inhibitors BEZ235/everolimus [0.03%]
mTOR/PI3K抑制剂BEZ235/everolimus治疗的男性乳腺癌长时稳定的分子特征分析
A Rose Brannon,Melissa Frizziero,David Chen et al.
A Rose Brannon et al.
The mTORC1 inhibitor everolimus (Afinitor/RAD001) has been approved for multiple cancer indications, including ER(+)/HER2(-) metastatic breast cancer. However, the combination of everolimus with the dual PI3K/mTOR inhibitor BEZ235 was shown...