Cargando…

Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation

ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) are a family of multidomain extracellular protease enzymes with 19 members. A growing number of ADAMTS family gene variants have been identified in patients with various hereditary diseases. To understand the genomic landscape a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rim, John Hoon, Choi, Yo Jun, Gee, Heon Yung
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7175297/ https://www.ncbi.nlm.nih.gov/pubmed/32183147 http://dx.doi.org/10.3390/biom10030449

Ejemplares similares

Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes
por: Yu, Seyoung, et al.
Publicado: (2023)

Evolutionary divergence and functions of the ADAM and ADAMTS gene families
por: Brocker, Chad N, et al.
Publicado: (2009)

ADAMTS13 Gene Mutations in Children with Hemolytic Uremic Syndrome
por: Choi, Hyoung Soo, et al.
Publicado: (2011)

Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis
por: Nandadasa, Sumeda, et al.
Publicado: (2019)

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders
por: Kim, Young-Eun, et al.
Publicado: (2019)

The role of ADAMTS genes in preeclampsia
por: Gökdemir, İrem Eda, et al.
Publicado: (2016)

ADAMTS9, a member of the ADAMTS family, in Xenopus development
por: Desanlis, Ines, et al.
Publicado: (2018)

Erratum: Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders
por: Kim, Young-Eun, et al.
Publicado: (2019)

Prognostic Values for the mRNA Expression of the ADAMTS Family of Genes in Gastric Cancer
por: Liang, Liang, et al.
Publicado: (2020)

Congenital Thrombotic Thrombocytopenic Purpura With a Novel ADAMTS13 Gene Mutation
por: Rashid, Anila, et al.
Publicado: (2020)

Functional evolution of ADAMTS genes: Evidence from analyses of phylogeny and gene organization
por: Nicholson, Ainsley C, et al.
Publicado: (2005)

Intracranial aneurysm’s association with genetic variants, transcription abnormality, and methylation changes in ADAMTS genes
por: Chen, Shi, et al.
Publicado: (2020)

Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency
por: Rim, John Hoon, et al.
Publicado: (2019)

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
por: Lal, Dennis, et al.
Publicado: (2020)

Verification of the Role of ADAMTS13 in the Cardiovascular Disease Using Two-Sample Mendelian Randomization
por: Ye, Zixiang, et al.
Publicado: (2021)

Identification of an ADAMTS2 frameshift variant in a cat family with Ehlers–Danlos syndrome
por: Simon, Rebecca, et al.
Publicado: (2023)

Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation
por: Truty, Rebecca, et al.
Publicado: (2021)

The role of ADAMTS genes in the end stage of hip osteoarthritis
por: Ayanoglu, Tacettin, et al.
Publicado: (2019)

The Mechanism and Role of ADAMTS Protein Family in Osteoarthritis
por: Li, Ting, et al.
Publicado: (2022)

Identifying Mendelian disease genes with the Variant Effect Scoring Tool
por: Carter, Hannah, et al.
Publicado: (2013)

The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families
por: Dong, Li, et al.
Publicado: (2022)

De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura
por: Alharbi, Ibrahim, et al.
Publicado: (2021)

ADAMTS3 and FLT4 gene mutations result in congenital lymphangiectasia in newborns: A case report
por: Liang, Zhu-Wei, et al.
Publicado: (2023)

Frequency of Pro475Ser Polymorphism of ADAMTS13 Gene and Its Association with ADAMTS-13 Activity in the Korean Population
por: Jang, Mun Ju, et al.
Publicado: (2008)

Investigating the association between serum ADAM/ADAMTS levels and bone mineral density by mendelian randomization study
por: Lv, Xin, et al.
Publicado: (2023)

Further Evidence of Mutational Heterogeneity of the XPC Gene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations
por: Ben Rekaya, Mariem, et al.
Publicado: (2013)

Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder
por: Kember, Rachel L, et al.
Publicado: (2015)

ADAMTS12, a new candidate gene for pediatric stroke
por: Witten, Anika, et al.
Publicado: (2020)

Gene Expression and Immunochemistry Analysis of ADAMTS-1 and Versican in Ameloblastoma
por: de Souza Neto, Osvaldo Rodrigues, et al.
Publicado: (2022)

Skeletal Class III Malocclusion Is Associated with ADAMTS2 Variants and Reduced Expression in a Familial Case
por: Yao, Siyue, et al.
Publicado: (2022)

The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) family
por: Kelwick, Richard, et al.
Publicado: (2015)

Beyond Mendelian randomization: how to interpret evidence of shared genetic predictors
por: Burgess, Stephen, et al.
Publicado: (2016)

Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations
por: Kalampokini, Stefania, et al.
Publicado: (2021)

Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes
por: Ganesh, Suhas, et al.
Publicado: (2018)

Positional identification of variants of Adamts16 linked to inherited hypertension
por: Joe, Bina, et al.
Publicado: (2009)

GAVIN: Gene-Aware Variant INterpretation for medical sequencing
por: van der Velde, K. Joeri, et al.
Publicado: (2017)

ADAMTS-9 in Mouse Cartilage Has Aggrecanase Activity That Is Distinct from ADAMTS-4 and ADAMTS-5
por: Rogerson, Fraser M., et al.
Publicado: (2019)

The ADAMTS/Fibrillin Connection: Insights into the Biological Functions of ADAMTS10 and ADAMTS17 and Their Respective Sister Proteases
por: Karoulias, Stylianos Z., et al.
Publicado: (2020)

Mendelian and Non-Mendelian Regulation of Gene Expression in Maize
por: Li, Lin, et al.
Publicado: (2013)

Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism
por: Renugadevi, Kathirvel, et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_k88ksu0v3cs2krbvv0firhbnvs