(Q38244479)

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Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing

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scholarly article

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Europe PubMed Central

PubMed publication ID

31 August 2017

Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

Coffin-Siris syndrome

1 reference

based on heuristic

inferred from title

author name string

Tomoki Kosho

1

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

Noriko Miyake

2

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

John C Carey

3

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

publication date

28 August 2014

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Europe PubMed Central

PubMed publication ID

31 August 2017

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

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Europe PubMed Central

PubMed publication ID

31 August 2017

166C

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Europe PubMed Central

PubMed publication ID

31 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

241-251

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

describes a project that uses

massive parallel sequencing

1 reference

based on heuristic

inferred from title

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

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A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum

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PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females

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Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.

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DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome

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Exome sequencing to identify de novo mutations in sporadic ALS trios

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A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

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Stimulation of GAL4 derivative binding to nucleosomal DNA by the yeast SWI/SNF complex

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Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

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Distinct phenotype of PHF6 deletions in females.

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TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

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Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study

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TBC1D24 truncating mutation resulting in severe neurodegeneration.

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Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis

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Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

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A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

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A rationale to target the SWI/SNF complex for cancer therapy

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Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

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Germline mutation of INI1/SMARCB1 in familial schwannomatosis

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Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy.

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Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

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Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia

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Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

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An essential switch in subunit composition of a chromatin remodeling complex during neural development

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Coffin-Siris syndrome

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SMARCA2 and other genome-wide supported schizophrenia-associated genes: regulation by REST/NRSF, network organization and primate-specific evolution

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Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome

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Evidence that Swi/Snf directly represses transcription in S. cerevisiae

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Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

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Numerous BAF complex genes are mutated in Coffin-Siris syndrome

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Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

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Specification of small distal 6q deletions in two patients by gene dosage and in situ hybridization study of plasminogen and alpha-L-fucosidase 2

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

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An unusual syndrome with mental retradation and sparse hair

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The BAF complex interacts with Pax6 in adult neural progenitors to establish a neurogenic cross-regulatory transcriptional network.

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Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

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Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25.

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Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

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SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability

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Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

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Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome

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The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

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Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers

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Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

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Nicolaides-Baraitser syndrome: Delineation of the phenotype

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Phenotype and genotype in Nicolaides-Baraitser syndrome

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PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex

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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

1 reference

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De novo SOX11 mutations cause Coffin-Siris syndrome

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Coffin-Siris syndrome is a SWI/SNF complex disorder

1 reference

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Chromatin regulation by BAF170 controls cerebral cortical size and thickness

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The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

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Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer

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The neuron-specific chromatin regulatory subunit BAF53b is necessary for synaptic plasticity and memory

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A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

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A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment

1 reference

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A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

1 reference

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Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.

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Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

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Identifiers

10.1002/AJMG.C.31415

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 August 2017

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