Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. (Q34110155)

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6 December 2019

title

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia (English)

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6 December 2019

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James R Lupski

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6 December 2019

5

Pawel Stankiewicz

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6

Lisa Rosenbarker

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6 December 2019

author name string

Cornelius F Boerkoel

1

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Hiroshi Takashima

2

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Joy John

3

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Jean-Luc André

7

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Radovan Bogdanovic

8

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Antoine Burguet

9

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Sandra Cockfield

10

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Isabel Cordeiro

11

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Stefan Fründ

12

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Friederike Illies

13

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Mark Joseph

14

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Ilkka Kaitila

15

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Giuliana Lama

16

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Chantal Loirat

17

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D Ross McLeod

18

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David V Milford

19

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Elizabeth M Petty

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Francisco Rodrigo

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Jorge M Saraiva

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Beate Schmidt

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Graham C Smith

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Jürgen Spranger

25

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Anja Stein

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Hannelore Thiele

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Jane Tizard

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Rosanna Weksberg

29

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David W Stockton

31

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language of work or name

English

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publication date

22 January 2002

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6 December 2019

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volume

30

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6 December 2019

issue

2

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6 December 2019

page(s)

215-220

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https://scigraph.springernature.com/pub.10.1038/ng821

6 December 2019

exact match

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cites work

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Schimke immuno-osseous dysplasia: case report and review of 25 patients

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7 January 2021

Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse

1 reference

7 January 2021

ATP-dependent chromatin remodeling activities.

1 reference

7 January 2021

SWI2/SNF2 and related proteins: ATP-driven motors that disrupt protein-DNA interactions?

1 reference

7 January 2021

A common set of conserved motifs in a vast variety of putative nucleic acid-dependent ATPases including MCM proteins involved in the initiation of eukaryotic DNA replication

1 reference

7 January 2021

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7 January 2021

Helicase motifs: the engine that powers DNA unwinding

1 reference

7 January 2021

ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes

1 reference

7 January 2021

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

1 reference

7 January 2021

Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations

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7 January 2021

BRCA1 is associated with a human SWI/SNF-related complex: linking chromatin remodeling to breast cancer

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7 January 2021

Avoiding recomputation in linkage analysis.

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7 January 2021

Allegro, a new computer program for multipoint linkage analysis

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7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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7 January 2021

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7 January 2021

Major domain swiveling revealed by the crystal structures of complexes of E. coli Rep helicase bound to single-stranded DNA and ADP

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7 January 2021

Crystal structure of a DExx box DNA helicase

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7 January 2021

Structure of the hepatitis C virus RNA helicase domain

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7 January 2021

Hepatitis C virus NS3 RNA helicase domain with a bound oligonucleotide: the crystal structure provides insights into the mode of unwinding

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7 January 2021

Site-directed mutations in motif VI of Escherichia coli DNA helicase II result in multiple biochemical defects: evidence for the involvement of motif VI in the coupling of ATPase and DNA binding activities via conformational changes

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7 January 2021

Mutation of a highly conserved arginine in motif IV of Escherichia coli DNA helicase II results in an ATP-binding defect.

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7 January 2021

Identifiers

DOI

10.1038/NG821

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6 December 2019

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