Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2045
Abstract: Tooth agenesis (TA) is a congenital abnormality that may present as syndromic or nonsyndromic. Considering its complex genetic aetiology, the aim of this study was to uncover the pathogenic mutants in patients with nonsyndromic TA… read more here.
Keywords: patients nonsyndromic; mutation analysis; analysis patients; nonsyndromic tooth ... See more keywords
Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.408
Abstract: Phenylketonuria (PKU) is an autosomal recessive disease resulting from mutations in the PAH gene. Most of the patients are compound heterozygotes, and genotype is a major factor in determining the phenotypic variability of PKU. More… read more here.
Keywords: analysis pah; gene phenylketonuria; rio janeiro; mutation analysis ... See more keywords
Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2020.116691
Abstract: BACKGROUND Mutations in CAPN1 have recently been reported to cause the spastic paraplegia 76 (SPG76) subtype of hereditary spastic paraplegia (HSP). To investigate the role of CAPN1 in spastic paraplegia and other neurodegenerative diseases, including… read more here.
Keywords: neurodegenerative diseases; spastic paraplegia; paraplegia; mutation analysis ... See more keywords
Mutation analysis of KIF5A in Chinese amyotrophic lateral sclerosis patients
Sign Up to like & getrecommendations! Published in 2019 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2018.08.006
Abstract: Amyotrophic lateral sclerosis (ALS) is an age-related fatal neurodegenerative orphan disorder that is characterized by progressive injury of both the upper and lower motor neurons. Recently, loss-of-function mutations predominately disrupting the C-terminal amino acid sequence… read more here.
Keywords: amyotrophic lateral; analysis kif5a; lateral sclerosis; mutation analysis ... See more keywords
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB
Sign Up to like & getrecommendations! Published in 2020 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2020.04.006
Abstract: DCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport and cytoplasmic transport of vesicles; mutations in DCTN1 have been reported predominantly in individuals with Perry syndrome and, recently, in patients… read more here.
Keywords: patients psp; dctn1; analysis italian; mutation analysis ... See more keywords
TERT Promoter Mutation Analysis to Distinguish Glioma From Gliosis.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of neuropathology and experimental neurology"
DOI: 10.1093/jnen/nlaa004
Abstract: Among the most challenging diagnostic issues in surgical neuropathology is the distinction between scant infiltration by diffuse gliomas and reactive gliosis. The best documented ancillary marker to establish a definitive diagnosis of glioma in this… read more here.
Keywords: gliomas; analysis; tert promoter; gliosis ... See more keywords
Data-Driven Mutation Analysis for Cyber-Physical Systems
Sign Up to like & getrecommendations! Published in 2022 at "IEEE Transactions on Software Engineering"
DOI: 10.1109/tse.2022.3213041
Abstract: Cyber-physical systems (CPSs) typically consist of a wide set of integrated, heterogeneous components; consequently, most of their critical failures relate to the interoperability of such components. Unfortunately, most CPS test automation techniques are preliminary and… read more here.
Keywords: driven mutation; mutation analysis; data driven; mutation ... See more keywords
Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China
Sign Up to like & getrecommendations! Published in 2020 at "Haemophilia"
DOI: 10.1111/hae.14206
Abstract: Haemophilia A (HA) is an X‐linked bleeding disorder caused by mutations in the coagulation factor Ⅷ (F8) gene. Its incidence in men is estimated to be approximately 1/5000. read more here.
Keywords: families haemophilia; 485 families; mutation analysis; gene 485 ... See more keywords
Hepatic angiomyolipoma: mutation analysis and immunohistochemical pitfalls in diagnosis
Sign Up to like & getrecommendations! Published in 2018 at "Histopathology"
DOI: 10.1111/his.13509
Abstract: Hepatic angiomyolipoma (AML) often shows epithelioid morphology with inconspicuous fat. Epithelioid component can mimic hepatocellular adenoma (HCA) or carcinoma (HCC). The aims of this study were to examine the expression of commonly used markers for… read more here.
Keywords: mutation analysis; angiomyolipoma mutation; hepatic angiomyolipoma; pitfalls diagnosis ... See more keywords
Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including A Novel Complex Rearrangement.
Sign Up to like & getrecommendations! Published in 2023 at "Nephron"
DOI: 10.1159/000530657
Abstract: BACKGROUND Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited disease of the kidney. It occurs in adulthood but is also rarely diagnosed in early childhood. The majority of the disease-causing variants observed… read more here.
Keywords: disease; pkd1 pkd2; mutation analysis; pkd1 ... See more keywords
Lymphoplasmacytic Lymphoma Presenting with Diarrhea and Joint Pain Which was Successfully Diagnosed by an MYD88 Mutation Analysis
Sign Up to like & getrecommendations! Published in 2017 at "Internal Medicine"
DOI: 10.2169/internalmedicine.56.7340
Abstract: A 55-year-old man presented to our department with diarrhea, weight loss, fatigability, and polyarthralgia. Blood tests revealed elevated soluble interleukin-2 receptor levels and IgG-type M protein positivity, without any findings that were suggestive of collagen… read more here.
Keywords: lymphoma; lymphoma presenting; lymphoplasmacytic lymphoma; mutation analysis ... See more keywords