NAGIOS: RODERIC FUNCIONANDO

Protein Identification and Haplotype Description of Homozygote Mutation Causing Congenital Plasminogen Deficiency

Repositori DSpace/Manakin

IMPORTANT: Aquest repositori està en una versió antiga des del 3/12/2023. La nova instal.lació está en https://roderic.uv.es/

Protein Identification and Haplotype Description of Homozygote Mutation Causing Congenital Plasminogen Deficiency

dc.contributor.author	Rodríguez-López, Raquel
dc.contributor.author	Gimeno-Ferrer, Fátima
dc.contributor.author	Esteve Martínez, Altea
dc.contributor.author	Casanova-Esquembre, Andrés
dc.contributor.author	Magdaleno-Tapial, Jorge
dc.contributor.author	Guzmán Luján, Carola
dc.contributor.author	Mena Durán, Armando V.
dc.contributor.author	De Las Marinas Álvarez, María Dolores
dc.contributor.author	Hernandez Bel, Laura
dc.contributor.author	Hernández Bel, Pablo
dc.contributor.author	Sánchez Del Pino, Manuel
dc.date.accessioned	2022-01-18T15:01:29Z
dc.date.available	2022-01-18T15:01:29Z
dc.date.issued	2021
dc.identifier.citation	Rodríguez-López, Raquel Gimeno-Ferrer, Fátima Esteve Martínez, Altea Casanova-Esquembre, Andrés Magdaleno-Tapial, Jorge Guzmán Luján, Carola Mena Durán, Armando V. De Las Marinas Álvarez, María Dolores Hernandez Bel, Laura Hernández Bel, Pablo Sánchez Del Pino, Manuel 2021 Protein Identification and Haplotype Description of Homozygote Mutation Causing Congenital Plasminogen Deficiency Clinics In Surgery 6 3379
dc.identifier.uri	https://hdl.handle.net/10550/81349
dc.description.abstract	Severe type I Plasminogen (PLG) deficiency was clinically diagnosed after hyaline-positive periodic acid Schiff material was detected in the histologic study of superior tarsal conjunctiva and vulvar pseudomembrane of the patient. Direct immunofluorescence also confirmed multiple deposits of fibrinogen in the dermis. Plasma plasminogen activity was calculated in a <5% value (reference values, 75% to 150%) and sequencing of the PLG gene evidenced the homozygous mutation in c.2377T/A (p.Tyr793Asn), confirming the molecular diagnosis of congenital deficiency of plasminogen type 1. Genotype-Phenotype correlation among family members evidenced the recessive hereditary pattern of clinical manifestations of chronic inflammatory disease of the mucous membranes due to PLG deficiency, but co-dominance effect to present a decreased plasma plasminogen activity (46%) among heterozygous asymptomatic individuals. SNPs/CNVs whole genome array hybridization analysis in the patient, detected long Loss of Heterozygosity regions (LOH) and demonstrated the consanguinity in the family. Proteomic analysis identified impaired secretion of mutant PLG tissue specific proteins, as definitive molecular etiopathogenesis of the type I PLG deficiency in the patient.
dc.language.iso	eng
dc.relation.ispartof	Clinics In Surgery, 2021, vol. 6, num. 3379
dc.subject	Activadors plasminògens
dc.subject	Proteïnes de la sang
dc.title	Protein Identification and Haplotype Description of Homozygote Mutation Causing Congenital Plasminogen Deficiency
dc.type	journal article	es_ES
dc.date.updated	2022-01-18T15:01:29Z
dc.identifier.idgrec	149788
dc.rights.accessRights	open access	es_ES