Results 31 to 40 of about 1,386 (148)

Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians. [PDF]

Pregnancy (Hoboken)
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Rosenfeld EB, Kasatkin N, Yu BL, Velinov M, Brandt JS, Ashkinadze E.   +5 more
europepmc   +2 more sources

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment [PDF]

, 2021
[Purpose]: The aim of the present work is the molecular diagnosis of three patients with deafness and retinal degeneration. [Methods]: Three patients from two unrelated families were initially analyzed with custom gene panels for Usher genes, non ...
Blanco-Kelly, Fiona, Rodríguez-Munoz, Ana, Vázquez, Selma, Beltrán, Sergi, Villaverde-Montero, Cristina, Zurita, Olga, Aller, Elena, Vallejo, Elena, Ávila-Fernández, Almudena, Sanchez-Navarro, Iker, Fuster-Garcia, Carla, Cortón, Marta, Hakonarson, Hakon, Millán, José M., Jaijo, Teresa, Derdak, Sophia, Tellería, Juan José, García-García, Gema   +17 more
core   +3 more sources

Avidity sequencing of whole genomes from retinal degeneration pedigrees identifies causal variants. [PDF]

PLoS ONE
Whole genome sequencing has been an effective tool in the discovery of variants that cause rare diseases. In this study, we determined the suitability of a novel avidity sequencing approach for rare disease applications.
Pooja Biswas, Adda Villanueva, Benjamin J Krajacich, Juan Moreno, Junhua Zhao, Anne Marie Berry, Danielle Lazaro, Bryan R Lajoie, Semyon Kruglyak, Radha Ayyagari   +9 more
doaj   +2 more sources

Pex6 and ubiquitination regulate topological remodeling of the peroxisomal membrane protein Pex14. [PDF]

J Biol Chem
Pex14 is a membrane peroxin that plays a central role in matrix protein import by mediating the docking of the cytosolic receptor Pex5, which delivers cargo harboring a peroxisome targeting signal 1. We previously reported the crystal structure of the conserved N-terminal domain of Pex14, which harbors the primary binding site for Pex5.
Yasumitsu T, Yagita Y, Fujiki Y, Tamura S.   +3 more
europepmc   +3 more sources

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

Molecular vision, 2020
PURPOSE: The aim of the present work is the molecular diagnosis of three patients with deafness and retinal degeneration. METHODS: Three patients from two unrelated families were initially analyzed with custom gene panels for Usher genes, non-syndromic ...
Blanco-Kelly, Fiona, Rodríguez-Munoz, Ana, Vázquez, Selma, Villaverde-Montero, Cristina, Zurita, Olga, Ayuso, Carmen, Aller, Elena, Vallejo, Elena, Sanchez-Navarro, Iker, Cortón, Marta, Hakonarson, Hakon, Millán, José M., Jaijo, Teresa, Derdak, Sophia, Avila-Fernández, Almudena, Tellería, Juan José, Fuster-García, Carla, García-García, Gema, Beltran, Sergi   +18 more
core   +4 more sources

Peroxisomes Implicated in the Biosynthesis of Siderophores and Biotin, Cell Wall Integrity, Autophagy, and Response to Hydrogen Peroxide in the Citrus Pathogenic Fungus Alternaria alternata

Frontiers in Microbiology, 2021
Little is known about the roles of peroxisomes in the necrotrophic fungal plant pathogens. In the present study, a Pex6 gene encoding an ATPase-associated protein was characterized by analysis of functional mutations in the tangerine pathotype of ...
Pei-Ching Wu, Yu-Kun Chen, Jonar I. Yago, Kuang-Ren Chung   +3 more
doaj   +1 more source

Saudi patient with peroxisome biogenesis disorder with novel variant: a case report

Journal of Biochemical and Clinical Genetics, 2021
Background: Peroxisomes are cells' organelles that responsible for the metabolism of branched-chain and very-long-chain fatty acids (VLCFA), polyamines, and amino acids.
Ahmed Awad AbuAlreesh, Rayah Mohamed Asiri, Abeer Awad AbuAlreesh, Zuhair Rahbeeni   +3 more
doaj   +1 more source

PEX6: An Imaging Overlap Between Peroxisomal and Lysosomal Storage Diseases [PDF]

Journal of Human and Clinical Genetics, 2020
Peroxisomal disorders are a group of expanding genetic diseases divided into two major categories: peroxisome biogenesis defects (Zellweger spectrum disorder), and single enzymatic defects. Disorders of Peroxisome Biogenesis occur when there are biallelic pathogenic variants in any of the 13 PEX genes, which code for the peroxins, proteins required for
César Augusto Pinheiro Ferreira Alves, Luisa Norbert Simonsen, Jonathan Rodrigues, Isabella Peixoto de Barcelos, Clarissa Bueno, Ramon Moura Dos Santos, Fernando Kok, Leandro Tavares Lucato   +7 more
openaire   +1 more source

Peroxins in Peroxisomal Receptor Export System Contribute to Development, Stress Response, and Virulence of Insect Pathogenic Fungus Beauveria bassiana

Journal of Fungi, 2022
In filamentous fungi, recycling of receptors responsible for protein targeting to peroxisomes depends on the receptor export system (RES), which consists of peroxins Pex1, Pex6, and Pex26.
Jia Hou, Haiyan Lin, Jinli Ding, Mingguang Feng, Shenghua Ying   +4 more
doaj   +1 more source

Zellweger's Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect. [PDF]

Cureus, 2023
Zellweger spectrum disorder (ZSD) is a group of autosomal recessive peroxisomal disorders caused by PEX gene mutations that commonly present with symptoms of severe hypotonia, epileptic seizures, failure to thrive, hepatomegaly, craniofacial dysmorphisms, and sensorineural hearing loss.
Slaton D, Chang A, Ahluwalia T, Alfaro S, Javed B, Greer R.   +5 more
europepmc   +3 more sources