A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathy [0.03%]
MYZAP双等位基因丢失功能突变与常染色体隐性遗传扩张型心肌病相关
Ales Maver,Tamara Zigman,Ashraf Yusuf Rangrez et al.
Ales Maver et al.
Purpose: Dilated cardiomyopathy (DCM) is a primary disorder of the cardiac muscle, characterised by dilatation of the left ventricle and contractile dysfunction. About 50% of DCM cases can be attributed to monogenic cause...
Genomic surveillance of SARS-CoV-2 during the first year of the pandemic in the Bronx enabled clinical and epidemiological inference [0.03%]
基因组监测在大流行的第一年中对布鲁克林区的SARS-CoV-2进行了临床和流行病学推断
J Maximilian Fels,Saad Khan,Ryan Forster et al.
J Maximilian Fels et al.
The Bronx was an early epicenter of the COVID-19 pandemic in the USA. We conducted temporal genomic surveillance of 104 SARS-CoV-2 genomes across the Bronx from March October 2020. Although the local structure of SARS-CoV-2 lineages mirrore...
EWSR1-TFCP2 in an adolescent represents an extremely rare and aggressive form of intraosseous spindle cell rhabdomyosarcomas [0.03%]
EWSR1-TFCP2在青少年中表现为极为罕见且具有侵袭性的骨内梭形细胞横纹肌肉瘤形式
Agnesa Panferova,Kseniya Yu Sinichenkova,Meriam Abu Jabal et al.
Agnesa Panferova et al.
The WHO Classification of Tumors of Soft Tissue and Bone subdivides rhabdomyosarcomas (RMS) into alveolar, embryonal, pleomorphic, and spindle cell RMS. Advances in molecular genetic diagnostics have made it possible to identify new RMS sub...
WP1066 induces cell death in a schwannomatosis patient-derived schwannoma cell line [0.03%]
WP1066诱导施万瘤病患者源性施万细胞系凋亡
Abdulrahman Allaf,Berta Victoria,Rosa Rosario et al.
Abdulrahman Allaf et al.
Schwannomatosis is a rare genetic disorder that predisposes individuals to development of multiple schwannomas mainly in spinal and peripheral nerves and to debilitating chronic pain often unrelated to any schwannoma. Pathogenic variants of...
A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report [0.03%]
EFTUD2 新发启动子突变致小头畸形并面部发育不良：病例报告
Muhammad Kohailan,Omayma Al-Saei,Sujitha Padmajeya et al.
Muhammad Kohailan et al.
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia...
Incidental discovery of acute myeloid leukemia during liquid biopsy of a lung cancer patient [0.03%]
肺癌患者进行液体活检时偶然发现急性髓系白血病
Dingani Nkosi,Caroline A Miller,Audrey N Jajosky et al.
Dingani Nkosi et al.
Liquid biopsy is considered an alternative to standard next-generation sequencing (NGS) of solid tumor samples when biopsy tissue is inadequate for testing or when testing of a peripheral blood sample is preferred. A common assumption of li...
Subit Barua,Sara Berger,Elaine M Pereira et al.
Subit Barua et al.
Vacuolar ATPases (V-ATPases) are large multisubunit proton pumps conserved among all eukaryotic cells that are involved in diverse functions including acidification of membrane-bound intracellular compartments. The ATP6AP1 gene encodes an a...
Identification of a novel pathogenic variant in FBN1 associated with Marfan Syndrome [0.03%]
FBN1基因的新致病突变与马凡综合征的关系研究
Julia P Pereira,Juliana R Ferreira,Anna Paula A Botelho et al.
Julia P Pereira et al.
Aortic diseases arising in Marfan Syndrome (MFS), such as in aneurysms and dissections of the thoracic aorta, are related to genetic alterations in the FBN1 gene. Databases, such as Universal Mutations-FBN1, ClinVar and The Human Gene Mutat...
De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy [0.03%]
GRIA2错义新发突变致发育迟缓、自闭症和难治性癫痫综合征一例报告
Maeson S Latsko,Daniel C Koboldt,Samuel J Franklin et al.
Maeson S Latsko et al.
De novo variants are increasingly recognized as a common cause of early infantile epileptic encephalopathies. We present a 4-year-old male with epileptic encephalopathy characterized by seizures, autism spectrum disorder, and global develop...
A case of microsatellite instability-high clinically advanced castration-resistant prostate cancer showing a remarkable response to pembrolizumab sustained over at least 18 months [0.03%]
一例微卫星高度不稳定且临床进展的去势抵抗性前列腺癌患者接受派姆单抗治疗后至少18个月仍维持显著疗效的病例报告
Kosuke Shimizu,Takeshi Sano,Kei Mizuno et al.
Kosuke Shimizu et al.
Defective DNA mismatch repair genes can lead to microsatellite instability (MSI)-high status in prostate cancer (PC). Accumulation of replication errors in DNA leads to the production of abundant neoantigens, which could be targets for immu...