Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores (Q34381793)

1 August 2017

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores (English)

1 reference

1 August 2017

1 reference

Laura Gonzalez-Mera

7

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Montse Olive

Montse Olivé

3

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Nigel G Laing

Nigel G Laing

20

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Martin Lammens

Martin Lammens

15

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Kathryn North

12

Kathryn N North

1 reference

1 August 2017

16

Baziel G M van Engelen

1 reference

1 August 2017

Nyamkhishig Sambuughin

1

1 reference

1 August 2017

Kyle S Yau

2

1 reference

1 August 2017

Rachael M Duff

4

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1 August 2017

Munkhuu Bayarsaikhan

5

1 reference

1 August 2017

Shajia Lu

6

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1 August 2017

Padma Sivadorai

8

1 reference

1 August 2017

Kristen J Nowak

9

1 reference

1 August 2017

Gianina Ravenscroft

10

1 reference

1 August 2017

Frank L Mastaglia

11

1 reference

1 August 2017

Biljana Ilkovski

13

1 reference

1 August 2017

Hannie Kremer

14

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1 August 2017

Vicki Fabian

17

1 reference

1 August 2017

Phillipa Lamont

18

1 reference

1 August 2017

Mark R Davis

19

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1 August 2017

Lev G Goldfarb

21

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1 August 2017

language of work or name

English

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publication date

25 November 2010

1 reference

American Journal of Human Genetics

1 August 2017

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1 August 2017

87

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1 August 2017

842-847

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1 August 2017

6

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Nemaline myopathy type 6: clinical and myopathological features

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

Klhl31 is associated with skeletal myogenesis and its expression is regulated by myogenic signals and Myf-5.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

What's new in congenital myopathies?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

Krp1 (Sarcosin) promotes lateral fusion of myofibril assembly intermediates in cultured mouse cardiomyocytes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

Sequence and structural analysis of BTB domain proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

Cullin-based ubiquitin ligases: Cul3-BTB complexes join the family.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

Molecular phylogeny of the kelch-repeat superfamily reveals an expansion of BTB/kelch proteins in animals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

New N-RAP-binding partners α-actinin, filamin and Krp1 detected by yeast two-hybrid screening: implications for myofibril assembly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

Nemaline myopathy: a clinical study of 143 cases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

Regulation of post-translational modifications of muskelin by protein kinase C.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

Targeting of protein ubiquitination by BTB–Cullin 3–Roc1 ubiquitin ligases

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997379

Muscle slowness in a family with nemaline myopathy

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21109227

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21109227

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.10.020

1 reference

release_bjzkamuuqfhsdfrgf6i5qyfatq

1 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bjzkamuuqfhsdfrgf6i5qyfatq

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

2997379

1 reference

1 August 2017

1 reference