FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1966133097> ?p ?o ?g. }

• W1966133097 endingPage "956" @default.
• W1966133097 startingPage "950" @default.
• W1966133097 abstract "Epidermolysis bullosa simplex associated with muscular dystrophy (EBS-MD; OMIM# 226670) is an autosomal recessive disorder caused by genetic defects in the plectin gene. Because EBS-MD is relatively rare, and gene defects have been elucidated only in a limited number of patients, the precise phenotype-genotype correlations have not yet been fully elucidated.The purpose of this study was to define clinical features of EBS-MD and to clarify its phenotype-genotype correlations.Clinical, ultrastructural, immunohistochemical, and molecular features of 4 unrelated Japanese patients with EBS-MD were recorded. In addition, 6 cases with defined plectin gene mutations reported in the literature were reviewed.In skin of the EBS-MD patients, the blister formation always occurs just above the hemidesmosomes, and expression of plectin is absent or markedly reduced in all cases examined. All 10 patients, including 6 cases in the literature, showed generalized blistering at birth or soon thereafter, and experienced nail deformities. In addition, decayed teeth (5 cases), urethral strictures (3), mild palmoplantar hyperkeratosis (2), infantile respiratory complications (2), alopecia (1), and laryngeal webs (1) were present. All 8 patients who were older than 9 years demonstrated considerable muscle weakness, and the majority of them ended up being wheelchair bound. Among the 10 patients, 7 were products of consanguineous marriage, 9 have premature termination codon (PTC) mutations in both alleles of the plectin gene, and 7 cases were homozygous for the mutation. One patient who is homozygous for a 2719del9 in-frame deletion mutation that resulted in elimination of 3 amino acids, QEA, could still walk at the age of 46 and showed milder clinical severity.EBS-MD reveals clinical features not only characteristic of EBS and MD, but also other manifestations including urethral, dental, and respiratory complications. The majority of patients are products of consanguineous marriage and have homozygous plectin gene mutations. Whereas patients with PTC mutations in both alleles typically showed severe clinical features of EBS-MD and ended up being wheelchair bound, a homozygous patient for an in-frame deletion mutation showed positive, yet attenuated, plectin expression and milder clinical phenotype. Thus plectin immunofluorescence, combined with identification of the underlying plectin mutations, is of value in predicting the severity of the muscle involvement that occurs later in life of patients with EBS-MD." @default.
• W1966133097 created "2016-06-24" @default.
• W1966133097 creator A5011944092 @default.
• W1966133097 creator A5013596644 @default.
• W1966133097 creator A5032533037 @default.
• W1966133097 creator A5052108858 @default.
• W1966133097 creator A5058589136 @default.
• W1966133097 creator A5061020893 @default.
• W1966133097 creator A5064512499 @default.
• W1966133097 creator A5073569021 @default.
• W1966133097 creator A5084693390 @default.
• W1966133097 date "1999-12-01" @default.
• W1966133097 modified "2023-09-23" @default.
• W1966133097 title "Epidermolysis bullosa simplex associated with muscular dystrophy: Phenotype-genotype correlations and review of the literature" @default.
• W1966133097 cites W1552753876 @default.
• W1966133097 cites W1645438335 @default.
• W1966133097 cites W1975117841 @default.
• W1966133097 cites W1977869838 @default.
• W1966133097 cites W2003036450 @default.
• W1966133097 cites W2024764852 @default.
• W1966133097 cites W2027319732 @default.
• W1966133097 cites W2037010651 @default.
• W1966133097 cites W2038835879 @default.
• W1966133097 cites W2039741195 @default.
• W1966133097 cites W2047796828 @default.
• W1966133097 cites W2050549657 @default.
• W1966133097 cites W2054468691 @default.
• W1966133097 cites W2057647024 @default.
• W1966133097 cites W2124751970 @default.
• W1966133097 cites W2132953573 @default.
• W1966133097 cites W2149138082 @default.
• W1966133097 cites W2165945808 @default.
• W1966133097 cites W4234294640 @default.
• W1966133097 doi "https://doi.org/10.1016/s0190-9622(99)70252-5" @default.
• W1966133097 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10570379" @default.
• W1966133097 hasPublicationYear "1999" @default.
• W1966133097 type Work @default.
• W1966133097 sameAs 1966133097 @default.
• W1966133097 citedByCount "56" @default.
• W1966133097 countsByYear W19661330972012 @default.
• W1966133097 countsByYear W19661330972013 @default.
• W1966133097 countsByYear W19661330972014 @default.
• W1966133097 countsByYear W19661330972016 @default.
• W1966133097 countsByYear W19661330972017 @default.
• W1966133097 countsByYear W19661330972018 @default.
• W1966133097 countsByYear W19661330972019 @default.
• W1966133097 countsByYear W19661330972021 @default.
• W1966133097 crossrefType "journal-article" @default.
• W1966133097 hasAuthorship W1966133097A5011944092 @default.
• W1966133097 hasAuthorship W1966133097A5013596644 @default.
• W1966133097 hasAuthorship W1966133097A5032533037 @default.
• W1966133097 hasAuthorship W1966133097A5052108858 @default.
• W1966133097 hasAuthorship W1966133097A5058589136 @default.
• W1966133097 hasAuthorship W1966133097A5061020893 @default.
• W1966133097 hasAuthorship W1966133097A5064512499 @default.
• W1966133097 hasAuthorship W1966133097A5073569021 @default.
• W1966133097 hasAuthorship W1966133097A5084693390 @default.
• W1966133097 hasConcept C104317684 @default.
• W1966133097 hasConcept C126322002 @default.
• W1966133097 hasConcept C127716648 @default.
• W1966133097 hasConcept C135763542 @default.
• W1966133097 hasConcept C142669718 @default.
• W1966133097 hasConcept C142724271 @default.
• W1966133097 hasConcept C1491633281 @default.
• W1966133097 hasConcept C16005928 @default.
• W1966133097 hasConcept C2776666470 @default.
• W1966133097 hasConcept C2778156654 @default.
• W1966133097 hasConcept C2778405274 @default.
• W1966133097 hasConcept C2778951404 @default.
• W1966133097 hasConcept C2779030066 @default.
• W1966133097 hasConcept C2779915019 @default.
• W1966133097 hasConcept C2781207856 @default.
• W1966133097 hasConcept C2994225774 @default.
• W1966133097 hasConcept C501734568 @default.
• W1966133097 hasConcept C54355233 @default.
• W1966133097 hasConcept C71924100 @default.
• W1966133097 hasConcept C78383274 @default.
• W1966133097 hasConcept C86803240 @default.
• W1966133097 hasConceptScore W1966133097C104317684 @default.
• W1966133097 hasConceptScore W1966133097C126322002 @default.
• W1966133097 hasConceptScore W1966133097C127716648 @default.
• W1966133097 hasConceptScore W1966133097C135763542 @default.
• W1966133097 hasConceptScore W1966133097C142669718 @default.
• W1966133097 hasConceptScore W1966133097C142724271 @default.
• W1966133097 hasConceptScore W1966133097C1491633281 @default.
• W1966133097 hasConceptScore W1966133097C16005928 @default.
• W1966133097 hasConceptScore W1966133097C2776666470 @default.
• W1966133097 hasConceptScore W1966133097C2778156654 @default.
• W1966133097 hasConceptScore W1966133097C2778405274 @default.
• W1966133097 hasConceptScore W1966133097C2778951404 @default.
• W1966133097 hasConceptScore W1966133097C2779030066 @default.
• W1966133097 hasConceptScore W1966133097C2779915019 @default.
• W1966133097 hasConceptScore W1966133097C2781207856 @default.
• W1966133097 hasConceptScore W1966133097C2994225774 @default.
• W1966133097 hasConceptScore W1966133097C501734568 @default.
• W1966133097 hasConceptScore W1966133097C54355233 @default.
• W1966133097 hasConceptScore W1966133097C71924100 @default.
• W1966133097 hasConceptScore W1966133097C78383274 @default.

• next