Cargando…

Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly

Nucleoporin (NUP) 85 is a member of the Y-complex of nuclear pore complex (NPC) that is key for nucleocytoplasmic transport function, regulation of mitosis, transcription, and chromatin organization. Mutations in various nucleoporin genes have been linked to several human diseases. Among them, NUP85...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ravindran, Ethiraj, Lesca, Gaetan, Januel, Louis, Goldgruber, Linus, Dickmanns, Achim, Margot, Henri, Kaindl, Angela M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9947397/ https://www.ncbi.nlm.nih.gov/pubmed/36846113 http://dx.doi.org/10.3389/fneur.2023.1124886

Ejemplares similares

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation
por: Farag, Heba Gamal, et al.
Publicado: (2013)

Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability
por: Ravindran, Ethiraj, et al.
Publicado: (2022)

Autosomal Recessive Primary Microcephaly: Not Just a Small Brain
por: Zaqout, Sami, et al.
Publicado: (2022)

Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly
por: Barbelanne, Marine, et al.
Publicado: (2014)

Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation
por: Issa, Lina, et al.
Publicado: (2013)

Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease
por: Vieira, Sophia R. L., et al.
Publicado: (2021)

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly
por: Kousar, Rizwana, et al.
Publicado: (2011)

Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum
por: Mahmood, Saqib, et al.
Publicado: (2011)

The Yin and Yang of Autosomal Recessive Primary Microcephaly Genes: Insights from Neurogenesis and Carcinogenesis
por: Zhou, Xiaokun, et al.
Publicado: (2020)

A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly
por: AKBARIAZAR, Elinaz, et al.
Publicado: (2013)

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly
por: Hashmi, Jamil A., et al.
Publicado: (2016)

Updates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population
por: Khan, Niaz Muhammad, et al.
Publicado: (2021)

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
por: Schnabel, Franziska, et al.
Publicado: (2023)

Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis
por: Okamoto, Nana, et al.
Publicado: (2017)

Case Report: Diffuse Cerebral Microbleeds in Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
por: Wen, Lan, et al.
Publicado: (2022)

Case report: Expanding the phenotype of ARHGEF17 mutations from increased intracranial aneurysm risk to a neurodevelopmental disease
por: Ravindran, Ethiraj, et al.
Publicado: (2022)

Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia
por: Chen, Jia, et al.
Publicado: (2022)

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
por: Traschütz, Andreas, et al.
Publicado: (2021)

Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta
por: Tang, Yen-An, et al.
Publicado: (2020)

Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation
por: Weber, Juliane, et al.
Publicado: (2019)

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report
por: Cherkaoui Jaouad, Imane, et al.
Publicado: (2018)

Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia
por: Chen, Yi-Jun, et al.
Publicado: (2021)

Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature
por: Marco Hernández, Ana Victoria, et al.
Publicado: (2021)

Autosomal Recessive Rod-Cone Dystrophy Associated With Compound Heterozygous Variants in ARL3 Gene
por: Fu, Leming, et al.
Publicado: (2021)

A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis
por: Wang, Xia, et al.
Publicado: (2023)

Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant
por: Ajiboye, Oyintayo, et al.
Publicado: (2023)

Dissecting the Genetic and Etiological Causes of Primary Microcephaly
por: Jean, Francesca, et al.
Publicado: (2020)

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly
por: Hassan, Muhammad Jawad, et al.
Publicado: (2007)

An Arabidopsis Nucleoporin NUP85 modulates plant responses to ABA and salt stress
por: Zhu, Yingfang, et al.
Publicado: (2017)

Primary microcephaly caused by novel compound heterozygous mutations in ASPM
por: Okamoto, Nobuhiko, et al.
Publicado: (2018)

Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family
por: Gao, Xue, et al.
Publicado: (2013)

Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20
por: Maia, Nuno, et al.
Publicado: (2020)

Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity
por: Šket, Robert, et al.
Publicado: (2022)

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy
por: Haque, Obaid Imtiyazul, et al.
Publicado: (2022)

Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2
por: Eren, Erdal, et al.
Publicado: (2023)

Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive
por: Bhargav, Desaraju Suresh, et al.
Publicado: (2017)

Autosomal recessive cerebellar ataxias
por: Palau, Francesc, et al.
Publicado: (2006)

Autosomal Recessive Stickler Syndrome
por: Nixon, Thomas R. W., et al.
Publicado: (2022)

CircNUP98 Suppresses the Maturation of miR-519a-3p in Glioblastoma
por: Lu, Jun, et al.
Publicado: (2021)

Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease
por: Hsueh, Hsueh Wen, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_kmd79oar5lgedrsuavljoj8acv