Jamal H Carter,Catherine E Cottrell,Samantha N McNulty et al.
Jamal H Carter et al.
FGFR2 is recurrently amplified in 5% of gastric cancers and 1%-4% of breast cancers; however, this molecular alteration has never been reported in a primary colorectal cancer specimen. Preclinical studies indicate that several FGFR tyrosine...
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure [0.03%]
快速全外显子组测序在尼曼匹克病型C中的诊断价值：胎儿水肿和急性肝功能衰竭表現型病例分析
Mersedeh Rohanizadegan,Sara M Abdo,Anne O&#x;Donnell-Luria et al.
Mersedeh Rohanizadegan et al.
Rapid whole-exome sequencing (rWES) is used in critically ill newborn infants to inform about diagnosis, clinical management, and prognosis. Here we report a male newborn infant with hydrops, pancytopenia, and acute liver failure who was li...
The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis [0.03%]
管理患者而不是基因的重要性：GLE1相关型先天性肢体畸形症的临床表型分析
Queenie K-G Tan,Allyn McConkie-Rosell,Jane Juusola et al.
Queenie K-G Tan et al.
GLE1 encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in GLE1 mutations have been associated with lethal contracture syndrome and lethal arthrogrypo...
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy [0.03%]
全基因组测序发现婴儿难治性腹泻和扩张型心肌病致病基因热点区域Mutations in CCDC85A cause early-onset, severe enteropathy with cardiac involvement
Dale L Bodian,Thierry Vilboux,Suchitra K Hourigan et al.
Dale L Bodian et al.
We describe a case of an infant presenting with intractable diarrhea who subsequently developed dilated cardiomyopathy, for whom a diagnosis was not initially achieved despite extensive clinical testing, including panel-based genetic testin...
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease [0.03%]
SLC19A3复合杂合突变进一步精简了维生素H-维生素PP反应性基底节病的关键启动子区域
Whitney Whitford,Isobel Hawkins,Emma Glamuzina et al.
Whitney Whitford et al.
Mutations in the gene SLC19A3 result in thiamine metabolism dysfunction syndrome 2, also known as biotin-thiamine-responsive basal ganglia disease (BTBGD). This neurometabolic disease typically presents in early childhood with progressive n...
Understanding physical activity in cancer patients and survivors: new methodology, new challenges, and new opportunities [0.03%]
癌症患者及幸存者中身体活动的理解：新方法、新挑战及新机遇
Jennifer A Schrack,Gillian Gresham,Amal A Wanigatunga
Jennifer A Schrack
Since the early 1990s, accumulating evidence has suggested that regular, sustained participation in physical activity may help prevent the onset and development of certain types of cancer. Given the worldwide incidence and prevalence of can...
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling [0.03%]
功能验证揭示了与洛伊斯-戴茨综合征(LDS)相关的新型错义V419L突变体(transforming growth factor-beta receptor 2(TGFBR2))会损害经典的转化生长因子-β信号通路
Margot A Cousin,Michael T Zimmermann,Angela J Mathison et al.
Margot A Cousin et al.
TGF-β-related heritable connective tissue disorders are characterized by a similar pattern of cardiovascular defects, including aortic root dilatation, mitral valve prolapse, vascular aneurysms, and vascular dissections and exhibit incompl...
An unusual genomic variant of pancreatic ductal adenocarcinoma with an indolent clinical course [0.03%]
一种罕见的胰腺导管腺癌基因型及其临床症状表现形式
Zachary A Kohutek,Lauren M Rosati,Junguei Hong et al.
Zachary A Kohutek et al.
We describe an 85-yr-old male of Ashkenazi Jewish descent with biopsy-proven locally advanced pancreatic ductal adenocarcinoma (PDA). The patient underwent a modified course of gemcitabine and stereotactic body radiation therapy and survive...
Metastatic triple-negative breast cancer patient with TP53 tumor mutation experienced 11 months progression-free survival on bortezomib monotherapy without adverse events after ending standard treatments with grade 3 adverse events [0.03%]
接受硼替佐米单药治疗后病情无进展的三阴性乳腺癌伴TP53基因突变的晚期患者案例：在经历标准治疗出现三级副反应后的11个月未进展生存期及无副反应事件发生
Tobias Meißner,Adam Mark,Casey Williams et al.
Tobias Meißner et al.
A triple-negative breast cancer patient had no hereditary BRCA1, BRCA2, or TP53 risk variants. After exhaustion of standard treatments, she underwent experimental treatments and whole-exome sequencing of tumor, blood, and a metastasis. Well...
SPG20 mutation in three siblings with familial hereditary spastic paraplegia [0.03%]
SPG20突变导致的遗传性痉挛性截瘫家系研究
Leila Dardour,Filip Roelens,Valerie Race et al.
Leila Dardour et al.
Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia. It is characterized by progressive lower extremity spasticity and weakness, dysarthria, distal amyotrophy, developmental delay, short ...