Cargando…

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder

More than 98% of the human genome is made up of non-coding DNA, but techniques to ascertain its contribution to human disease have lagged far behind our understanding of protein coding variations. Autism spectrum disorder (ASD) has been mostly associated with coding variations via de novo single nuc...

Descripción completa

Detalles Bibliográficos
Autores principales:	Schmitz-Abe, Klaus, Sanchez-Schmitz, Guzman, Doan, Ryan N., Hill, R. Sean, Chahrour, Maria H., Mehta, Bhaven K., Servattalab, Sarah, Ataman, Bulent, Lam, Anh-Thu N., Morrow, Eric M., Greenberg, Michael E., Yu, Timothy W., Walsh, Christopher A., Markianos, Kyriacos
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7441318/ https://www.ncbi.nlm.nih.gov/pubmed/32820185 http://dx.doi.org/10.1038/s41598-020-70656-0

Ejemplares similares

Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism
por: Chahrour, Maria H., et al.
Publicado: (2012)

Biallelic Mutations In Human DCC Cause Developmental Split Brain Syndrome
por: Jamuar, Saumya S., et al.
Publicado: (2017)

CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1
por: Hemmat, Morteza, et al.
Publicado: (2017)

Homozygous deletion of Tenascin-R in a patient with intellectual disability
por: Dufresne, David, et al.
Publicado: (2012)

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood
por: Lewis-Smith, David, et al.
Publicado: (2016)

A Clinical Case of a Homozygous Deletion in the APOA5 Gene with Severe Hypertriglyceridemia
por: Vasiluev, Petr Andreevich, et al.
Publicado: (2022)

Homozygous N396T mutation in Gaucher disease: Portuguese sisters with markedly different phenotypes
por: Kimball, Samantha, et al.
Publicado: (2011)

CDKN2A/B homozygous deletion is associated with early recurrence in meningiomas
por: Sievers, Philipp, et al.
Publicado: (2020)

DELISHUS: an efficient and exact algorithm for genome-wide detection of deletion polymorphism in autism
por: Aguiar, Derek, et al.
Publicado: (2012)

Amplified and Homozygously Deleted Genes in Glioblastoma: Impact on Gene Expression Levels
por: Crespo, Inês, et al.
Publicado: (2012)

FNBtools: A Software to Identify Homozygous Lesions in Deletion Mutant Populations
por: Sun, Liang, et al.
Publicado: (2018)

Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma
por: Snuderl, Matija, et al.
Publicado: (2018)

Intragenic Homozygous Deletions of MTS1 Gene in Gastric Cancer in Taiwan
por: Wu, Ming‐Shiang, et al.
Publicado: (1996)

Homozygous MTAP deletion in primary human glioblastoma is not associated with elevation of methylthioadenosine
por: Barekatain, Yasaman, et al.
Publicado: (2021)

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease
por: Joshi, Mugdha, et al.
Publicado: (2016)

Pan-cancer analysis of homozygous deletions in primary tumours uncovers rare tumour suppressors
por: Cheng, Jiqiu, et al.
Publicado: (2017)

Craniofacial Defects in Embryos with Homozygous Deletion of Eftud2 in Their Neural Crest Cells Are Not Rescued by Trp53 Deletion
por: Beauchamp, Marie-Claude, et al.
Publicado: (2022)

Extended homozygous haplotypes at genes involved in brain development associated with autism
por: Lin, Ping-I
Publicado: (2012)

Multiple Patterns of FHIT Gene Homozygous Deletion in Egyptian Breast Cancer Patients
por: Ismail, Heba M. S., et al.
Publicado: (2011)

A human laterality disorder associated with a homozygous WDR16 deletion
por: Ta-Shma, Asaf, et al.
Publicado: (2015)

TRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletion
por: Buntinx, L., et al.
Publicado: (2016)

Essential genes shape cancer genomes through linear limitation of homozygous deletions
por: Pertesi, Maroulio, et al.
Publicado: (2019)

Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing
por: Bigio, Benedetta, et al.
Publicado: (2021)

CDKN2A/B Homozygous Deletions in Astrocytomas: A Literature Review
por: Yuile, Alexander, et al.
Publicado: (2023)

Translating genetic and preclinical findings into autism therapies
por: Chahrour, Maria, et al.
Publicado: (2017)

A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis
por: Ibrahim, M. T., et al.
Publicado: (2018)

Homozygous Deletion of Six Olfactory Receptor Genes in a Subset of Individuals with Beta-Thalassemia
por: Van Ziffle, Jessica, et al.
Publicado: (2011)

ChopSticks: High-resolution analysis of homozygous deletions by exploiting concordant read pairs
por: Yasuda, Tomohiro, et al.
Publicado: (2012)

Homozygous Deletion Mutation of the FERMT1 Gene in a Chinese Patient with Kindler Syndrome
por: Oh, Seung Joon, et al.
Publicado: (2016)

A website to identify shared genes in Saccharomyces cerevisiae homozygous deletion library screens
por: Temple, Mark D.
Publicado: (2018)

Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes
por: Vidali, Silvia, et al.
Publicado: (2021)

First case of ductal adenocarcinoma of the prostate with MAP3K1 homozygous deletion
por: Shojo, Kazunori, et al.
Publicado: (2021)

Author Correction: Pan-cancer analysis of homozygous deletions in primary tumours uncovers rare tumour suppressors
por: Cheng, Jiqiu, et al.
Publicado: (2019)

Author Correction: Pan-cancer analysis of homozygous deletions in primary tumours uncovers rare tumour suppressors
por: Cheng, Jiqiu, et al.
Publicado: (2018)

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
por: Santoro, Lucio, et al.
Publicado: (2010)

Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population
por: Kourtian, Silva, et al.
Publicado: (2017)

A major genetic locus controlling natural Plasmodium falciparum infection is shared by East and West African Anopheles gambiae
por: Riehle, Michelle M, et al.
Publicado: (2007)

Systematic screens of a Candida albicans homozygous deletion library decouple morphogenetic switching and pathogenicity
por: Noble, Suzanne M., et al.
Publicado: (2010)

The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile
por: Rashidi-Nezhad, Ali, et al.
Publicado: (2014)

Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome
por: Xue, Yan‐Yan, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_tp0tcug0fb7uqip3kmcc10c89i