Your browser doesn't support javascript.
loading
Prioritization of putatively detrimental variants in euploid miscarriages.
Buonaiuto, Silvia; Biase, Immacolata Di; Aleotti, Valentina; Ravaei, Amin; Marino, Adriano De; Damaggio, Gianluca; Chierici, Marco; Pulijala, Madhuri; D'Ambrosio, Palmira; Esposito, Gabriella; Ayub, Qasim; Furlanello, Cesare; Greco, Pantaleo; Capalbo, Antonio; Rubini, Michele; Biase, Sebastiano Di; Colonna, Vincenza.
Afiliação
  • Buonaiuto S; University of Campania Luigi Vanvitelli, Naples, 81100, Italy.
  • Biase ID; MeriGen Research, Naples, 80131, Italy.
  • Aleotti V; Department of Neurosciences and Rehabilitation, University of Ferrara, Ferrara, 44121, Italy.
  • Ravaei A; Department of Neurosciences and Rehabilitation, University of Ferrara, Ferrara, 44121, Italy.
  • Marino A; Igenomix Italy, Marostica, 36063, Italy.
  • Damaggio G; University of Naples Federico II, Naples, Italy.
  • Chierici M; Fondazione Bruno Kessler, DSH Lab, Trento, 38123, Italy.
  • Pulijala M; Monash University Malaysia Genomics Facility, Tropical Medicine and Biology Multidisciplinary Platform, 47500, Bandar Sunway, Malaysia.
  • D'Ambrosio P; School of Science, Monash University Malaysia, 47500, Bandar Sunway, Malaysia.
  • Esposito G; MeriGen Research, Naples, 80131, Italy.
  • Ayub Q; MeriGen Research, Naples, 80131, Italy.
  • Furlanello C; Monash University Malaysia Genomics Facility, Tropical Medicine and Biology Multidisciplinary Platform, 47500, Bandar Sunway, Malaysia.
  • Greco P; School of Science, Monash University Malaysia, 47500, Bandar Sunway, Malaysia.
  • Capalbo A; HK3 Lab, Rovereto, 38068, Italy.
  • Rubini M; Department of Medical Sciences, University of Ferrara, Ferrara, 44121, Italy.
  • Biase SD; Igenomix Italy, Marostica, 36063, Italy.
  • Colonna V; Department of Neurosciences and Rehabilitation, University of Ferrara, Ferrara, 44121, Italy.
Sci Rep ; 12(1): 1997, 2022 02 07.
Article em En | MEDLINE | ID: mdl-35132093
ABSTRACT
Miscarriage is the spontaneous termination of a pregnancy before 24 weeks of gestation. We studied the genome of euploid miscarried embryos from mothers in the range of healthy adult individuals to understand genetic susceptibility to miscarriage not caused by chromosomal aneuploidies. We developed GP , a pipeline that we used to prioritize 439 unique variants in 399 genes, including genes known to be associated with miscarriages. Among the prioritized genes we found STAG2 coding for the cohesin complex subunit, for which inactivation in mouse is lethal, and TLE4 a target of Notch and Wnt, physically interacting with a region on chromosome 9 associated to miscarriages.
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Aborto Espontâneo / Predisposição Genética para Doença / Estudos de Associação Genética / Aneuploidia Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Pregnancy Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Aborto Espontâneo / Predisposição Genética para Doença / Estudos de Associação Genética / Aneuploidia Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Pregnancy Idioma: En Ano de publicação: 2022 Tipo de documento: Article