Cargando…

PYCR2 Mutation Causing Hypomyelination and Microcephaly in an Indian Child

Hypomyelinating leukodystrophy (HLD) represents a group of clinically overlapping but genetically heterogeneous diseases. This group of disorders has the improper formation of myelin sheaths in the central nervous system (CNS), resulting in abnormal white matter, with characteristic MRI findings and...

Descripción completa

Detalles Bibliográficos
Autores principales:	Srivastava, Preeti, Mishra, Asit Kumar, Sarkar, Nilanjan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8143271/ https://www.ncbi.nlm.nih.gov/pubmed/34055512 http://dx.doi.org/10.7759/cureus.14661

Ejemplares similares

Mutation in PYCR2 gene and hypomyelinating leukodystrophy in children: a case report study
por: Hosseini, Seyed Ahmad, et al.
Publicado: (2023)

Hypomyelinating Leukodystrophy 10 (HLD10)-Associated Mutations of PYCR2 Form Large Size Mitochondria, Inhibiting Oligodendroglial Cell Morphological Differentiation
por: Torii, Tomohiro, et al.
Publicado: (2022)

Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations
por: Zhu, Jingyi, et al.
Publicado: (2023)

Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia
por: Xie, Guilan, et al.
Publicado: (2022)

Case Report: DARS Mutations Responsible for Hypomyelination With Brain Stem and Spinal Cord Involvement and Leg Spasticity
por: Liu, Meijun, et al.
Publicado: (2022)

Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly
por: Schleinitz, Dorit, et al.
Publicado: (2018)

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly
por: Pengelly, Reuben J, et al.
Publicado: (2016)

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
por: Chelban, Viorica, et al.
Publicado: (2017)

PYCR1 and PYCR2 Interact and Collaborate with RRM2B to Protect Cells from Overt Oxidative Stress
por: Kuo, Mei-Ling, et al.
Publicado: (2016)

Kif14 Mutation Causes Severe Brain Malformation and Hypomyelination
por: Fujikura, Kohei, et al.
Publicado: (2013)

Genomic Analysis of Korean Patient With Microcephaly
por: Lee, Jiwon, et al.
Publicado: (2021)

Identification of a de novo Mutation in TMEM106B in a Saudi Child Causes Hypomyelination Leukodystrophy
por: Alotaibi, Lena, et al.
Publicado: (2023)

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis
por: Hengel, Holger, et al.
Publicado: (2017)

Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White Matter
por: Wongkittichote, Parith, et al.
Publicado: (2022)

Biallelic mutations in UGDH cause congenital microcephaly
por: Shu, Li, et al.
Publicado: (2023)

Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
por: Dorboz, Imen, et al.
Publicado: (2018)

Genetic diagnosis of fetal microcephaly at a single tertiary center in China
por: Wang, You, et al.
Publicado: (2023)

Hyperoxia Induced Hypomyelination
por: Song, Weilin, et al.
Publicado: (2022)

Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients
por: Capkova, Zuzana, et al.
Publicado: (2019)

PYCR1 is Associated with Papillary Renal Cell Carcinoma Progression
por: Wang, Qiu-Li, et al.
Publicado: (2019)

The clinical significance of PYCR1 expression in renal cell carcinoma
por: Weijin, Fu, et al.
Publicado: (2019)

A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly
por: Abdulkarim, Baroj, et al.
Publicado: (2015)

A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder
por: Komachali, Sajad Rafiee, et al.
Publicado: (2022)

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
por: Shen, Jun, et al.
Publicado: (2010)

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings
por: Mouden, Charlotte, et al.
Publicado: (2015)

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

PYCR1: A Potential Prognostic Biomarker in Pancreatic Ductal Adenocarcinoma
por: Wang, Huanyu, et al.
Publicado: (2022)

P(0) Glycoprotein Overexpression Causes Congenital Hypomyelination of Peripheral Nerves
por: Wrabetz, Lawrence, et al.
Publicado: (2000)

Altered PLP1 splicing causes hypomyelination of early myelinating structures
por: Kevelam, Sietske H, et al.
Publicado: (2015)

POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy
por: Kashiki, Hitoshi, et al.
Publicado: (2020)

A Novel Mutation in KCDT7 Gene in an Indian Girl With Progressive Myoclonus Epilepsy
por: Dudipala, Sai Chandar, et al.
Publicado: (2021)

POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?
por: Coulombe, Benoit, et al.
Publicado: (2021)

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia
por: Boczonadi, Veronika, et al.
Publicado: (2014)

Landscape of Variability in Chemosensory Genes Associated With Dietary Preferences in Indian Population: Analysis of 1029 Indian Genomes
por: Prakrithi, P., et al.
Publicado: (2022)

Hypomyelination following deletion of Tsc2 in oligodendrocyte precursors
por: Carson, Robert P., et al.
Publicado: (2015)

Defective myelination in mice harboring hypomyelinating leukodystrophy-associated HSPD1 mutation
por: Miyamoto, Yuki, et al.
Publicado: (2017)

In crystallo screening for proline analog inhibitors of the proline cycle enzyme PYCR1
por: Christensen, Emily M., et al.
Publicado: (2021)

Survival and clinicopathological significance of PYCR1 expression in cancer: A meta-analysis
por: Li, Yue, et al.
Publicado: (2022)

Metabolomic and transcriptomic studies of improvements in myocardial infarction due to Pycr1 deletion
por: Xue, Zhimin, et al.
Publicado: (2022)

A Rare Cause of Recurrent Febrile Encephalopathy in a Child: The Expanding Spectrum of ATP1A3 Mutations
por: Tahir, Saja, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_6ksbdmf3b113qkp9gtv62v6dp4