Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
A case report and genetic characterization of a massive acinic cell carcinoma of the parotid with delayed distant metastases. [PDF]
, 2013 We describe the presentation, management, and clinical outcome of a massive acinic cell carcinoma of the parotid gland. The primary tumor and blood underwent exome sequencing which revealed deletions in CDKN2A as well as PPP1R13B, which induces p53.
Agrawal, Sumit K +17 more
core +3 more sources
Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7 [PDF]
, 2023 Koji Obara, Erika Abe, Itaru Toyoshima
openalex +1 more source
Refractory Status Epilepticus Treated With Bilateral Pulvinar Deep Brain Stimulation—A Case Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT New‐onset refractory status epilepticus (NORSE) arises without an identifiable cause or prior epilepsy history, with a 16%–27% mortality rate and significant long‐term neurological sequelae. Neuromodulation such as deep brain stimulation (DBS) targeting the anterior and centromedian thalamic nuclei has shown promise when the traditional ...
Mengxuan Tang +16 more
wiley +1 more source
Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. [PDF]
, 2013 We sequenced 11 germline exomes from five families with familial pancreatic cancer (FPC). One proband had a germline nonsense variant in ATM with somatic loss of the variant allele. Another proband had a nonsense variant in PALB2 with somatic loss of the
Al-Sukhni, Wigdan +12 more
core +3 more sources
Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda +12 more
wiley +1 more source
Whole exome sequencing enhances diagnosis of hereditary bronchiectasis
Orphanet Journal of Rare DiseasesBackground Hereditary bronchiectasis refers to a subset of bronchiectasis related to genetic mutations, presenting with common clinical features. Historically, diagnosing this condition has been difficult due to the inaccessibility of diagnostic services
Wangji Zhou +17 more
doaj +1 more source
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. [PDF]
, 2020 Genetic variants are the primary driver of congenital heart disease (CHD) pathogenesis. However, our ability to identify causative variants is limited.
Bernstein, Daniel +25 more
core
A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders [PDF]
, 2014 BACKGROUND: Mendelian disorders are mostly caused by single mutations in the DNA sequence of a gene, leading to a phenotype with pathologic consequences.
Diego Carrella +6 more
core +1 more source
Advanced Science, EarlyView.This study successfully establishes adamantinomatous craniopharyngioma (ACP) patient‐derived organoids (PDOs) that preserve the histopathological and genetic features of the original tumors. Through drug sensitivity assays and subsequent mechanistic analyses, the study demonstrates that Ceritinib exerts its inhibitory effects on ACP PDO growth by ...
Huarong Zhang +15 more
wiley +1 more source