(Q35950455)

11 August 2017

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression (English)

1 reference

11 August 2017

1 reference

GOA release 2020-03-11

author name string

Alireza Baradaran-Heravi

1

1 reference

11 August 2017

Kyoung Sang Cho

2

1 reference

11 August 2017

Bas Tolhuis

3

1 reference

11 August 2017

Mrinmoy Sanyal

4

1 reference

11 August 2017

Olena Morozova

5

1 reference

11 August 2017

Marie Morimoto

6

1 reference

11 August 2017

Leah I Elizondo

7

1 reference

11 August 2017

Darren Bridgewater

8

1 reference

11 August 2017

Joanna Lubieniecka

9

1 reference

11 August 2017

Kimberly Beirnes

10

1 reference

11 August 2017

Clara Myung

11

1 reference

11 August 2017

Danny Leung

12

1 reference

11 August 2017

Hok Khim Fam

13

1 reference

11 August 2017

Kunho Choi

14

1 reference

11 August 2017

Yan Huang

15

1 reference

11 August 2017

Kira Y Dionis

16

1 reference

11 August 2017

Jonathan Zonana

17

1 reference

11 August 2017

Kory Keller

18

1 reference

11 August 2017

Peter Stenzel

19

1 reference

11 August 2017

Christy Mayfield

20

1 reference

11 August 2017

Thomas Lücke

21

1 reference

11 August 2017

Arend Bokenkamp

22

1 reference

11 August 2017

Marco A Marra

23

1 reference

11 August 2017

Maarten van Lohuizen

24

1 reference

11 August 2017

David B Lewis

25

1 reference

11 August 2017

Chad Shaw

26

1 reference

11 August 2017

Cornelius F Boerkoel

27

1 reference

11 August 2017

language of work or name

1 reference

28 February 2012

1 reference

11 August 2017

Human Molecular Genetics

1 reference

11 August 2017

21

1 reference

11 August 2017

11

1 reference

11 August 2017

2572-2587

1 reference

The HARP domain dictates the annealing helicase activity of HARP/SMARCAL1.

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

A role for CDK9-cyclin K in maintaining genome integrity

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Methylated H3K4, a transcription-associated histone modification, is involved in the DNA damage response pathway

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

55K isoform of CDK9 associates with Ku70 and is involved in DNA repair

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Variability in gene expression underlies incomplete penetrance

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Genetic mechanisms and modifying factors in hereditary hemochromatosis.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Identification of SMARCAL1 as a component of the DNA damage response

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

The annealing helicase HARP protects stalled replication forks

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

The annealing helicase HARP is recruited to DNA repair sites via an interaction with RPA

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

HARP is an ATP-driven annealing helicase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

NELF-mediated stalling of Pol II can enhance gene expression by blocking promoter-proximal nucleosome assembly

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

A RECQ5-RNA polymerase II association identified by targeted proteomic analysis of human chromatin

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

RNA polymerase is poised for activation across the genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

RNA polymerase stalling at developmental control genes in the Drosophila melanogaster embryo

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Schimke immuno-osseous dysplasia: a clinicopathological correlation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

The FUSE/FBP/FIR/TFIIH system is a molecular machine programming a pulse of c-myc expression

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Genome-wide profiling of PRC1 and PRC2 Polycomb chromatin binding in Drosophila melanogaster

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Cockayne syndrome B protein regulates the transcriptional program after UV irradiation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

p8/TTD-A as a repair-specific TFIIH subunit

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Coregulated human globin genes are frequently in spatial proximity when active

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Arabidopsis RPA2: a genetic link among transcriptional gene silencing, DNA repair, and DNA replication.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Transcription arrest at DNA damage sites

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

RPAP1, a novel human RNA polymerase II-associated protein affinity purified with recombinant wild-type and mutated polymerase subunits

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

The histone modification pattern of active genes revealed through genome-wide chromatin analysis of a higher eukaryote

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Distinct HP1 and Su(var)3-9 complexes bind to sets of developmentally coexpressed genes depending on chromosomal location

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Penetrance and expressivity in the molecular age

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

DAVID: Database for Annotation, Visualization, and Integrated Discovery

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

DNA topology-mediated control of global gene expression in Escherichia coli

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

DNA repair and transcriptional effects of mutations in TFIIH in Drosophila development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Activation of ATM and phosphorylation of p53 by heat shock

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

A human RNA polymerase II-containing complex associated with factors necessary for spliceosome assembly

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Compensation of BRG-1 function by Brm: insight into the role of the core SWI-SNF subunits in retinoblastoma tumor suppressor signaling

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Chromatin profiling using targeted DNA adenine methyltransferase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

A eukaryotic SWI2/SNF2 domain, an exquisite detector of double-stranded to single-stranded DNA transition elements

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Differential control of transcription-induced and overall DNA supercoiling by eukaryotic topoisomerases in vitro.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Drosophila Polycomb-group regulated chromatin inhibits the accessibility of a trans-activator to its target DNA.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

RAD25 is a DNA helicase required for DNA repair and RNA polymerase II transcription

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Rapid colorimetric assay for cellular growth and survival: Application to proliferation and cytotoxicity assays

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Genetics, chance, and morphogenesis.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

A stable genomic source of P element transposase in Drosophila melanogaster.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

DNA supercoiling and prokaryotic transcription

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Z-DNA as a probe for localized supercoiling in vivo

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

The functional response of upstream DNA to dynamic supercoiling in vivo

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Detection of apoptosis by terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling and acridine orange in Drosophila embryos and adult male gonads.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Schimke immuno-osseous dysplasia: a cell autonomous disorder?

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Association of migraine-like headaches with Schimke immuno-osseous dysplasia.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Heat stress induces a biphasic thermoregulatory response in mice.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Systematic generation of high-resolution deletion coverage of the Drosophila melanogaster genome

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Effect of varying the supercoiling of DNA on transcription and its regulation.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Genome-wide DNA replication profile for Drosophila melanogaster: a link between transcription and replication timing

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349428

Mutation ofFOXL2in Granulosa-Cell Tumors of the Ovary

24 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDS083

Specific Inhibition of Nuclear RNA Polymerase II by α-Amanitin

21 January 2018

1 reference

12 December 2020

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

1 reference

12 December 2020

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

12 December 2020

Dominant modifier DFNM1 suppresses recessive deafness DFNB26

1 reference

12 December 2020

Low penetrant hemochromatosis phenotype in eight families: no evidence of modifiers in the MHC region

1 reference

12 December 2020

Inhibition of RNA polymerase II as a trigger for the p53 response

1 reference

12 December 2020

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDS083

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

22378147

1 reference