Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis
Sign Up to like & getrecommendations! Published in 2018 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.568
Abstract: Truncating mutations in PRNP have been associated with heterogeneous phenotypes ranging from chronic diarrhea and neuropathy to dementia, either rapidly or slowly progressive. We identified novel PRNP stop‐codon mutations (p.Y163X, p.Y169X) in two Italian kindreds.… read more here.
Keywords: broaden spectrum; truncating mutations; mutations broaden; novel prnp ... See more keywords
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy
Sign Up to like & getrecommendations! Published in 2020 at "Acta Neuropathologica"
DOI: 10.1007/s00401-020-02128-8
Abstract: Several intracellular proteins are involved in mediating vesicular transport of protein and lipid cargo from the endoplasmic reticulum (ER) to the Golgi apparatus (GA) in eukaryotic cells. Errors in membrane trafficking between ER and GA… read more here.
Keywords: epilepsy; yif1b cause; progressive encephalopathy; truncating mutations ... See more keywords
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
Sign Up to like & getrecommendations! Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.06.006
Abstract: Hereditary gingival fibromatosis (HGF) is the most common genetic form of gingival fibromatosis that develops as a slowly progressive, benign, localized or generalized enlargement of keratinized gingiva. HGF is a genetically heterogeneous disorder and can… read more here.
Keywords: hereditary gingival; final exon; truncating mutations; gingival fibromatosis ... See more keywords
Limited role of interferon‐kappa (IFNK) truncating mutations in common variable immunodeficiency
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DOI: 10.1016/j.cyto.2017.03.005
Abstract: HighlightsWhole exome sequencing was performed to determine the genetic background of common variable immunodeficiency in two non‐consanguineous German families.IFNK was found as the only candidate gene that harbored truncating mutations in affected members from both… read more here.
Keywords: variable immunodeficiency; truncating mutations; common variable; ifnk ... See more keywords
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome
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DOI: 10.1111/cge.13162
Abstract: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. It is caused by mutations in the NALCN gene that encodes… read more here.
Keywords: novel nalcn; ihprf1 syndrome; biallelic truncating; mutations nalcn ... See more keywords
RASA1 and NF1 are Preferentially Co-Mutated and Define A Distinct Genetic Subset of Smoking-Associated Non–Small Cell Lung Carcinomas Sensitive to MEK Inhibition
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Cancer Research"
DOI: 10.1158/1078-0432.ccr-17-2343
Abstract: Purpose: Ras-GTPase–activating proteins (RasGAP), notably NF1 and RASA1, mediate negative control of the RAS/MAPK pathway. We evaluated clinical and molecular characteristics of non–small cell lung carcinoma (NSCLC) with RASA1 mutations in comparison with NF1-mutated cases.… read more here.
Keywords: rasa1 nf1; truncating mutations; rasa1; cancer ... See more keywords