Cargando…

A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity—Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1

Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a peroxisome biogenesis disorder caused by defects in PEX7 leading to impairment in plasmalogen (Pls) biosynthesis and phytanic acid (PA) oxidation. Pls deficiency is the main pathogenic factor that determines the severity of RCDP. Severe (class...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fallatah, Wedad, Cui, Wei, Di Pietro, Erminia, Carter, Grace T., Pounder, Brittany, Dorninger, Fabian, Pifl, Christian, Moser, Ann B., Berger, Johannes, Braverman, Nancy E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Cell and Developmental Biology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9310236/ https://www.ncbi.nlm.nih.gov/pubmed/35898397 http://dx.doi.org/10.3389/fcell.2022.886316

Ejemplares similares

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene
por: Çim, Abdullah, et al.
Publicado: (2015)

The neurology of rhizomelic chondrodysplasia punctata
por: Bams-Mengerink, Annemieke M, et al.
Publicado: (2013)

Rare Case of Rhizomelic Chondrodysplasia Punctata
por: Mahale, Yashwant, et al.
Publicado: (2015)

Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata
por: Fallatah, Wedad, et al.
Publicado: (2020)

A Case of Rhizomelic Chondrodysplasia Punctata in Newborn
por: Karabayır, Nalan, et al.
Publicado: (2014)

An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn
por: Chatterjee, Sitangshu, et al.
Publicado: (2013)

A Case of Rhizomelic Chondrodysplasia Punctata in a Neonate
por: Javaid, Haroon A, et al.
Publicado: (2022)

Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis
por: Chhavi, Nanda, et al.
Publicado: (2012)

A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata
por: Cordisco, Adalgisa, et al.
Publicado: (2021)

Rhizomelic chondrodysplasia punctata: Role of EEG as a biomarker of impending epilepsy
por: Samanta, Debopam
Publicado: (2019)

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1
por: Jacobsen, Jessie C., et al.
Publicado: (2015)

Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata
por: Luisman, Tarik, et al.
Publicado: (2021)

Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene
por: Sayed, Jamal, et al.
Publicado: (2023)

A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report
por: Shawli, Aiman M, et al.
Publicado: (2021)

Alkylglycerone phosphate synthase (AGPS) deficient mice: Models for rhizomelic chondrodysplasia punctata type 3 (RCDP3) malformation syndrome
por: Liegel, Ryan P., et al.
Publicado: (2014)

Chondrodysplasia Punctata with Severe Airway Stenosis
por: Deepthi, Bobbity, et al.
Publicado: (2018)

Brachytelephalangic chondrodysplasia punctata: A difficult diagnosis
por: Sanfilippo, Andrea, et al.
Publicado: (2015)

Severe phenotype of X‐linked dominant chondrodysplasia punctata
por: Damseh, Nadirah, et al.
Publicado: (2017)

Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review
por: Alrukban, Hadeel, et al.
Publicado: (2018)

Successful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia Punctata
por: Fujimoto, Yoh, et al.
Publicado: (2019)

In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor
por: Wood, Paul L, et al.
Publicado: (2011)

Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature
por: Jurkiewicz, Elżbieta, et al.
Publicado: (2013)

Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss
por: Vrečar, Irena, et al.
Publicado: (2015)

X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report
por: Liu, Yan, et al.
Publicado: (2019)

Cervical corpectomy in a pediatric patient with chondrodysplasia punctata and C5 dysplasia with spinal cord compression: illustrative case
por: Patel, Nirali P, et al.
Publicado: (2023)

Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation
por: He, Guannan, et al.
Publicado: (2019)

Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE
por: Zhang, Li, et al.
Publicado: (2021)

Pseudoachondroplasia: A rare cause of rhizomelic dwarfism
por: Tandon, Anupama, et al.
Publicado: (2008)

Paraplegia in Chondrodysplasia
Publicado: (1927)

Pustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation
por: HASEGAWA, Akito, et al.
Publicado: (2021)

Acne Punctata
Publicado: (1881)

Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency
por: Dorninger, Fabian, et al.
Publicado: (2023)

AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder
por: Argyriou, Catherine, et al.
Publicado: (2021)

Grubs in the Face—Acne Punctata
Publicado: (1867)

Hereditary Chondrodysplasia. With a Case Report
por: Das, Amal, et al.
Publicado: (1948)

Intraoperative Dilemmas in Polyorchidism: To Pex or not to Pex!!
por: Mittal, Priyanka Garg, et al.
Publicado: (2020)

Functional neuroanatomy of the rhinophore of Aplysia punctata
por: Wertz, Adrian, et al.
Publicado: (2006)

Isolation and Characterization of an Aeromonas punctata Bacteriophage
por: Kai, Cheng, et al.
Publicado: (2015)

Homeostasis of phospholipids — The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens
por: Dorninger, Fabian, et al.
Publicado: (2015)

The Pex6 N1 domain is required for Pex15 binding and proper assembly with Pex1
por: Ali, Bashir A., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_qc748vgdabt2deh2gq576bhteg