(Q37010363)

17 August 2017

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy (English)

1 reference

Kelch-like family member 40b

17 August 2017

1 reference

Kelch-like family member 40a

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Martin Lammens

39

1 reference

17 August 2017

45

1 reference

17 August 2017

Raquel Vaz

22

0 references

Sophie Monnot

Sophie Monnot

26

0 references

Catherine A. Brownstein

Catherine A Brownstein

24

0 references

Vilma-Lotta Lehtokari

Vilma-Lotta Lehtokari

Robert J. Bryson-Richardson

3

0 references

Robert J Bryson-Richardson

21

0 references

Adrian K. Charles

Adrian K Charles

36

0 references

Yoshinori Tsurusaki

Yoshinori Tsurusaki

9

0 references

Hirotomo Saitsu

Hirotomo Saitsu

11

0 references

Kathryn North

Kathryn N North

44

0 references

Alan H. Beggs

Alan H Beggs

50

0 references

Nigel G Laing

Nigel G Laing

55

0 references

Ichizo Nishino

Ichizo Nishino

52

0 references

Haluk Topaloglu

49

Haluk Topaloglu

1 reference

17 August 2017

51

Richard J N Allcock

1 reference

17 August 2017

43

Nigel F Clarke

1 reference

17 August 2017

42

Francesco Muntoni

1 reference

17 August 2017

Gianina Ravenscroft

1

1 reference

17 August 2017

Satoko Miyatake

2

1 reference

17 August 2017

Emily J Todd

4

1 reference

17 August 2017

Pauliina Vornanen

5

1 reference

17 August 2017

Kyle S Yau

6

1 reference

17 August 2017

Yukiko K Hayashi

7

1 reference

17 August 2017

Noriko Miyake

8

1 reference

17 August 2017

Hiroshi Doi

10

1 reference

17 August 2017

Hitoshi Osaka

12

1 reference

17 August 2017

Sumimasa Yamashita

13

1 reference

17 August 2017

Takashi Ohya

14

1 reference

17 August 2017

Yuko Sakamoto

15

1 reference

17 August 2017

Eriko Koshimizu

16

1 reference

17 August 2017

Shintaro Imamura

17

1 reference

17 August 2017

Michiaki Yamashita

18

1 reference

17 August 2017

Kazuhiro Ogata

19

1 reference

17 August 2017

Masaaki Shiina

20

1 reference

17 August 2017

Ozge Ceyhan

23

1 reference

17 August 2017

Lindsay C Swanson

25

1 reference

17 August 2017

Norma B Romero

27

1 reference

17 August 2017

Helge Amthor

28

1 reference

17 August 2017

Nina Kresoje

29

1 reference

17 August 2017

Padma Sivadorai

30

1 reference

17 August 2017

Cathy Kiraly-Borri

31

1 reference

17 August 2017

Goknur Haliloglu

32

1 reference

17 August 2017

Beril Talim

33

1 reference

17 August 2017

Diclehan Orhan

34

1 reference

17 August 2017

Gulsev Kale

35

1 reference

17 August 2017

Victoria A Fabian

37

1 reference

17 August 2017

Mark R Davis

38

1 reference

17 August 2017

Caroline A Sewry

40

1 reference

17 August 2017

Adnan Manzur

41

1 reference

17 August 2017

Yoram Nevo

46

1 reference

17 August 2017

Ekkhard Willichowski

47

1 reference

17 August 2017

Inger E Silberg

48

1 reference

17 August 2017

Carina Wallgren-Pettersson

53

1 reference

17 August 2017

Naomichi Matsumoto

54

1 reference

17 August 2017

language of work or name

English

0 references

publication date

6 June 2013

1 reference

American Journal of Human Genetics

17 August 2017

1 reference

17 August 2017

93

1 reference

17 August 2017

1

1 reference

17 August 2017

6-18

1 reference

Structural Basis for Cul3 Protein Assembly with the BTB-Kelch Family of E3 Ubiquitin Ligases

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

An integrated map of genetic variation from 1,092 human genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Clinical utility gene card for: nemaline myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Congenital myopathies: an update

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Fetal akinesia: review of the genetics of the neuromuscular causes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

A graphical interface for the FoldX forcefield

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Dissociated flexor digitorum brevis myofiber culture system--a more mature muscle culture system.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Molecular determinants for the recruitment of the ubiquitin-ligase MuRF-1 onto M-line titin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

GENCODE: producing a reference annotation for ENCODE

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

The FoldX web server: an online force field

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

The age of a neutral mutant persisting in a finite population

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Lethal arthrogryposis multiplex congenita: a pathological study of 21 cases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Migration of zebrafish spinal motor nerves into the periphery requires multiple myotome-derived cues

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3710748

Infant with high arched palate, bell-shaped chest, joint contractures, and intrauterine fractures

4 December 2018

1 reference

12 December 2020

Fetal akinesia sequence caused by nemaline myopathy

1 reference

12 December 2020

Gene expression profiling of bovine skeletal muscle in response to and during recovery from chronic and severe undernutrition

1 reference

12 December 2020

Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies

1 reference

12 December 2020

10.1016/J.AJHG.2013.05.004

Identifiers

DOI

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

23746549

1 reference