Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome.
CHRNG
Escobar syndrome
IGF-1
POLG1
TPM2
WES
genetic modifiers
nemaline myopathy
rare neuromuscular disease
rt-qPCR
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
27 Sep 2022
27 Sep 2022
Historique:
received:
20
08
2022
revised:
21
09
2022
accepted:
22
09
2022
entrez:
27
10
2022
pubmed:
28
10
2022
medline:
29
10
2022
Statut:
epublish
Résumé
Escobar syndrome is a rare, autosomal recessive disorder that affects the musculoskeletal system and the skin. Mutations in the
Identifiants
pubmed: 36292632
pii: genes13101748
doi: 10.3390/genes13101748
pmc: PMC9601381
pii:
doi:
Substances chimiques
Insulin-Like Growth Factor I
67763-96-6
Receptors, Nicotinic
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
Prenat Diagn. 2013 Jan;33(1):61-74
pubmed: 23296716
J Physiol Biochem. 2017 May;73(2):245-258
pubmed: 28124277
Am J Dis Child. 1978 Jun;132(6):609-11
pubmed: 655146
Neuromuscul Disord. 2007 Jun;17(6):433-42
pubmed: 17434307
Clin Dysmorphol. 2013 Apr;22(2):54-58
pubmed: 23448903
Clin Genet. 2020 Jun;97(6):908-914
pubmed: 32092148
Asian J Surg. 2006 Apr;29(2):104-8
pubmed: 16644513
Am J Hum Genet. 2003 Mar;72(3):681-90
pubmed: 12592607
Nucleic Acids Res. 2019 Jul 2;47(W1):W93-W98
pubmed: 31147699
Biochem Biophys Res Commun. 2005 Jun 17;331(4):1522-7
pubmed: 15883046
Eur J Med Genet. 2014 Aug;57(8):464-72
pubmed: 24704792
J Mol Med (Berl). 2008 Nov;86(11):1197-204
pubmed: 18574571
J Clin Invest. 2016 Feb;126(2):762-78
pubmed: 26752647
Neuromuscul Disord. 2020 Feb;30(2):159-164
pubmed: 32005493
Genes (Basel). 2021 Aug 06;12(8):
pubmed: 34440395
J Bone Joint Surg Am. 2009 Jul;91 Suppl 4:40-6
pubmed: 19571066
Handb Clin Neurol. 2013;113:1311-9
pubmed: 23622356
J Pediatr Genet. 2020 Aug 26;11(2):144-146
pubmed: 35769964
Orthop Surg. 2013 Nov;5(4):297-301
pubmed: 24254455
Nat Rev Endocrinol. 2015 Dec;11(12):735-46
pubmed: 26437621
Am J Hum Genet. 2006 Aug;79(2):390-5
pubmed: 16826531
BMC Genet. 2016 May 31;17(1):71
pubmed: 27245440
Neurology. 2007 Mar 6;68(10):772-5
pubmed: 17339586
Neuromuscul Disord. 2008 Dec;18(12):1005
pubmed: 18789687
Dev Biol. 1996 Oct 10;179(1):223-38
pubmed: 8873766
Neuropediatrics. 2004 Oct;35(5):302-6
pubmed: 15534765
BMC Genomics. 2021 Apr 10;22(1):254
pubmed: 33836657
Am J Hum Genet. 2008 Jan;82(1):222-7
pubmed: 18179903
J Med Genet. 1997 Sep;34(9):705-13
pubmed: 9321754
Differentiation. 2013 Nov-Dec;86(4-5):184-91
pubmed: 24361185
Neuromuscul Disord. 2009 Feb;19(2):118-23
pubmed: 19155175
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Am J Hum Genet. 2013 Jul 11;93(1):6-18
pubmed: 23746549
Nature. 1986 May 22-28;321(6068):406-11
pubmed: 2423878
Brain. 2013 Feb;136(Pt 2):494-507
pubmed: 23378224
Prenat Diagn. 2018 Jan;38(1):33-43
pubmed: 29096039
Am J Med Genet A. 2019 Jun;179(6):915-926
pubmed: 30868735
Nat Methods. 2012 Mar 04;9(4):357-9
pubmed: 22388286
Dev Biol. 2001 Jan 1;229(1):141-62
pubmed: 11133160
J Clin Invest. 2014 Aug;124(8):3529-39
pubmed: 24960163
Orthopedics. 2009 Jun;32(6):411
pubmed: 19634821
Skelet Muscle. 2014 Jun 01;4:11
pubmed: 24959344
Am J Hum Genet. 2006 Aug;79(2):303-12
pubmed: 16826520
J Appl Physiol (1985). 2015 Jan 1;118(1):86-97
pubmed: 25554798
Anat Rec. 1993 Jul;236(3):553-62
pubmed: 8363059
Neuromuscul Disord. 2002 Feb;12(2):151-8
pubmed: 11738357
Teratology. 1969 Feb;2(1):33-7
pubmed: 4892408
Am J Med Genet A. 2013 Dec;161A(12):3042-8
pubmed: 24038971
Acta Neuropathol. 2017 Apr;133(4):517-533
pubmed: 28012042
Endocrinology. 2018 Apr 1;159(4):1844-1859
pubmed: 29509880
Ital J Pediatr. 2017 Nov 15;43(1):101
pubmed: 29141652
Bone. 2015 Nov;80:79-88
pubmed: 26453498
BMC Med Genet. 2008 Jul 14;9:67
pubmed: 18625075
Genes (Basel). 2021 Dec 23;13(1):
pubmed: 35052370
Neuromuscul Disord. 2021 Apr;31(4):359-366
pubmed: 33558124
J Med Genet. 2012 Jan;49(1):21-6
pubmed: 22167768
Nat Rev Neurol. 2019 Jan;15(1):40-52
pubmed: 30451971
J Med Genet. 2018 Aug;55(8):505-514
pubmed: 29959180
Genet Epidemiol. 2004 Jul;27(1):74-9
pubmed: 15185405
Mol Med Rep. 2014 Aug;10(2):579-84
pubmed: 24859417
Minerva Pediatr. 2020 Jun 12;:
pubmed: 32536119