Cargando…

A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease

Aminoacyl-tRNA synthetases (ARSs) are crucial enzymes for protein translation. Mutations in genes encoding ARSs are associated with human disease. Tyrosyl-tRNA synthetase is encoded by YARS which is ubiquitously expressed and implicated in an autosomal dominant form of Charcot-Marie-Tooth and autoso...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zeiad, Rawah K H M, Ferren, Edwin C, Young, Denise D, De Lancy, Shanelle J, Dedousis, Demitrios, Schillaci, Lori-Anne, Redline, Raymond W, Saab, Shahrazad T, Crespo, Maricruz, Bhatti, Tricia R, Ackermann, Amanda M, Bedoyan, Jirair K, Wood, Jamie R
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7806200/ https://www.ncbi.nlm.nih.gov/pubmed/33490854 http://dx.doi.org/10.1210/jendso/bvaa196

Ejemplares similares

YARS2 Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality
por: Gurtner, Corinne, et al.
Publicado: (2020)

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia
por: Riley, Lisa G, et al.
Publicado: (2013)

A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy
por: Forrest, Megan E., et al.
Publicado: (2022)

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
por: Tracewska-Siemiątkowska, Anna, et al.
Publicado: (2017)

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
por: Averdunk, Luisa, et al.
Publicado: (2021)

Medieval mummies of Zeleny Yar burial ground in the Arctic Zone of Western Siberia
por: Slepchenko, Sergey Mikhailovich, et al.
Publicado: (2019)

Nuclear import of dimerized ribosomal protein Rps3 in complex with its chaperone Yar1
por: Mitterer, Valentin, et al.
Publicado: (2016)

Consanguinity and its socio-biological parameters in Rahim Yar Khan District, Southern Punjab, Pakistan
por: Riaz, Hafiza Fizzah, et al.
Publicado: (2016)

Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency
por: Carreño-Gago, Lidia, et al.
Publicado: (2021)

Targeting mitochondrial tyrosyl-tRNA synthetase YARS2 suppresses colorectal cancer progression
por: Fang, Qingxia, et al.
Publicado: (2022)

Congenital limb defects in a married female population of the Rahim Yar Khan District in Pakistan
por: Riaz, Hafiza Fizzah, et al.
Publicado: (2021)

Opisthorchiasis in infant remains from the medieval Zeleniy Yar burial ground of XII-XIII centuries AD
por: Slepchenko, Sergey Mikhailovich, et al.
Publicado: (2015)

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations
por: Shahni, Rojeen, et al.
Publicado: (2013)

YARS as an oncogenic protein that promotes gastric cancer progression through activating PI3K-Akt signaling
por: Zhang, Cheng, et al.
Publicado: (2020)

Neolithic farmers or Neolithic foragers? Organic residue analysis of early pottery from Rakushechny Yar on the Lower Don (Russia)
por: Bondetti, Manon, et al.
Publicado: (2021)

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
por: Riley, Lisa G., et al.
Publicado: (2018)

Leber's Hereditary Optic Neuropathy Arising From the Synergy Between ND1 3635G>A Mutation and Mitochondrial YARS2 Mutations
por: Jin, Xiaofen, et al.
Publicado: (2021)

Empowering health workers and leveraging digital technology to improve access to mental health and epilepsy care: A longitudinal quasi-experimental study in Hlaing Thar Yar Township
por: Gyee, Khin Maung, et al.
Publicado: (2022)

Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants
por: Rudaks, Laura I., et al.
Publicado: (2022)

Symphony no. 13 "Babi Yar" /
por: Shostakovich, Dmitriĭ Dmitrievich, 1906-1975
Publicado: (1996)

Symphony no. 13 Babi-Yar /
por: Shostakovich, Dmitri Dmitrievich, 1906-1975
Publicado: (1992)

The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification
por: Ducich, Nicole, et al.
Publicado: (2020)

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects
por: Bedoyan, Jirair K., et al.
Publicado: (2020)

Association of a homozygous GCK missense mutation with mild diabetes
por: Marucci, Antonella, et al.
Publicado: (2019)

Adult-onset leukoencephalopathy with homozygous LAMB1 missense mutation
por: Yasuda, Rei, et al.
Publicado: (2020)

MBOAT1 homozygous missense variant causes nonobstructive azoospermia
por: Wan, Yang-Yang, et al.
Publicado: (2021)

Intellectual disability associated with a homozygous missense mutation in THOC6
por: Beaulieu, Chandree L, et al.
Publicado: (2013)

Male hypogonadism caused by a homozygous missense mutation of the LHB gene
por: Chen, Jie, et al.
Publicado: (2021)

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
por: Bouwkamp, Christian G., et al.
Publicado: (2018)

Sacs R272C missense homozygous mice develop an ataxia phenotype
por: Larivière, Roxanne, et al.
Publicado: (2019)

Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy
por: Inoue, Michio, et al.
Publicado: (2018)

Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant
por: Hannah, William B., et al.
Publicado: (2019)

Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family
por: Elsayed, Liena E. O., et al.
Publicado: (2020)

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease
por: Beaman, Glenda M., et al.
Publicado: (2019)

A homozygous missense variant in DND1 causes non-obstructive azoospermia in humans
por: Xie, Xuefeng, et al.
Publicado: (2022)

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease
por: Nagy, Sara, et al.
Publicado: (2022)

Disruption of RAB40AL function leads to Martin–Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder
por: Bedoyan, Jirair Krikor, et al.
Publicado: (2012)

Symphony no. 13 in B flat minor, op. 113 (1962) Babi Yar /
por: Shostakovich, Dmitri Dmitrievich, 1906-1975
Publicado: (1987)

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
por: Çağlayan, Ahmet Okay, et al.
Publicado: (2016)

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family
por: Bigoni, Stefania, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_2be6jjdnba38tdmpbkpbqanmas