|
1
|
Wang Y, Zhao A, Zhang X, Huang D, Zhu H,
Sun Q, Yu J, Chen J, Zhao X, Li R, et al: Prevalence of strabismus
among preschool children in eastern China and comparison at a
5-year interval: A population-based cross-sectional study. BMJ
Open. 11(e055112)2021.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Fieß A, Elflein HM, Urschitz MS, Pesudovs
K, Münzel T, Wild PS, Michal M, Lackner KJ, Pfeiffer N, Nickels S
and Schuster AK: Prevalence of strabismus and its impact on
vision-related quality of life: Results from the German
population-based Gutenberg health study. Ophthalmology.
127:1113–1122. 2020.PubMed/NCBI View Article : Google Scholar
|
|
3
|
Matsuo T and Matsuo C: The prevalence of
strabismus and amblyopia in Japanese elementary school children.
Ophthalmic Epidemiol. 12:31–36. 2009.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Chia A, Dirani M, Chan YH, Gazzard G, Eong
KG, Selvaraj P, Ling Y, Quah BL, Young TL, Mitchell P, et al:
Prevalence of amblyopia and strabismus in young singaporean chinese
children. Invest Ophthalmol Vis Sci. 51:3411–3417. 2010.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Maconachie GD, Gottlob I and McLean RJ:
Risk factors and genetics in common comitant strabismus: A
systematic review of the literature. JAMA Ophthalmol.
131:1179–1186. 2013.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Hu DN: Prevalence and mode of inheritance
of major genetic eye diseases in China. J Med Genet. 24:584–588.
1987.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Mohney BG, Erie JC, Hodge DO and Jacobsen
SJ: Congenital esotropia in Olmsted county, Minnesota.
Ophthalmology. 105:846–850. 1998.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Pennefather PM, Clarke MP, Strong NP,
Cottrell DG, Dutton J and Tin W: Risk factors for strabismus in
children born before 32 weeks' gestation. Br J Ophthalmol.
83:514–518. 1999.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Matsuo T, Hayashi M, Fujiwara H, Yamane T
and Ohtsuki H: Concordance of strabismic phenotypes in monozygotic
versus multizygotic twins and other multiple births. Jpn J
Ophthalmol. 46:59–64. 2002.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Parikh V, Shugart YY, Doheny KF, Zhang J,
Li L, Williams J, Hayden D, Craig B, Capo H, Chamblee D, et al: A
strabismus susceptibility locus on chromosome 7p. Proc Natl Acad
Sci USA. 100:12283–12288. 2003.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Shaaban S, Matsuo T, Fujiwara H, Itoshima
E, Furuse T, Hasebe S, Zhang Q, Ott J and Ohtsuki H: Chromosomes
4q28.3 and 7q31.2 as new susceptibility loci for comitant
strabismus. Invest Ophthalmol Vis Sci. 50:654–661. 2009.PubMed/NCBI View Article : Google Scholar
|
|
12
|
Zhang J and Matsuo T: MGST2 and WNT2 are
candidate genes for comitant strabismus susceptibility in Japanese
patients. PeerJ. 5(e3935)2017.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Tarasov A, Vilella AJ, Cuppen E, Nijman IJ
and Prins P: Sambamba: Fast processing of NGS alignment formats.
Bioinformatics. 31:2032–2034. 2015.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Wang K, Li M and Hakonarson H: ANNOVAR:
Functional annotation of genetic variants from high-throughput
sequencing data. Nucleic Acids Res. 38(e164)2010.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Sim N, Kumar P, Hu J, Henikoff S,
Schneider G and Ng PC: SIFT web server: Predicting effects of amino
acid substitutions on proteins. Nucleic Acids Res. 40:W452–W457.
2012.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Adzhubei IA, Schmidt S, Peshkin L,
Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR: A
method and server for predicting damaging missense mutations. Nat
Methods. 7:248–249. 2010.PubMed/NCBI View Article : Google Scholar
|
|
17
|
1000 Genomes Project Consortium. Auton A,
Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL,
McCarthy S, McVean GA and Abecasis GR: A global reference for human
genetic variation. Nature. 526:68–74. 2015.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Lek M, Karczewski KJ, Minikel EV, Samocha
KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ,
Cummings BB, et al: Analysis of protein-coding genetic variation in
60,706 humans. Nature. 536:285–291. 2016.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Karczewski KJ, Francioli LC, Tiao G,
Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A,
Birnbaum DP, et al: The mutational constraint spectrum quantified
from variation in 141,456 humans. Nature. 581:434–443.
2020.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Cao Y, Li L, Xu M, Feng Z, Sun X, Lu J, Xu
Y, Du P, Wang T, Hu R, et al: The ChinaMAP analytics of deep whole
genome sequences in 10,588 individuals. Cell Res. 30:717–731.
2020.PubMed/NCBI View Article : Google Scholar
|
|
21
|
Yang H, Robinson PN and Wang K:
Phenolyzer: Phenotype-based prioritization of candidate genes for
human diseases. Nat Methods. 12:841–843. 2015.PubMed/NCBI View Article : Google Scholar
|
|
22
|
Krumm N, Sudmant PH, Ko A, O'Roak BJ,
Malig M and Coe BP: NHLBI Exome Sequencing Project. Quinlan AR,
Nickerson DA and Eichler EE: Copy number variation detection and
genotyping from exome sequence data. Genome Res. 22:1525–1532.
2012.PubMed/NCBI View Article : Google Scholar
|
|
23
|
MacDonald JR, Ziman R, Yuen RKC, Feuk L
and Scherer SW: The database of genomic variants: A curated
collection of structural variation in the human genome. Nucleic
Acids Res. 42:D986–D992. 2013.PubMed/NCBI View Article : Google Scholar
|
|
24
|
Zarrei M, MacDonald JR, Merico D and
Scherer SW: A copy number variation map of the human genome. Nat
Rev Genet. 16:172–183. 2015.PubMed/NCBI View Article : Google Scholar
|
|
25
|
Qiu F, Xu Y, Li K, Li Z, Liu Y, DuanMu H,
Zhang S, Li Z, Chang Z, Zhou Y, et al: CNVD: Text mining-based copy
number variation in disease database. Hum Mutat. 33:E2375–E2381.
2012.PubMed/NCBI View Article : Google Scholar
|
|
26
|
Livak KJ and Schmittgen TD: Analysis of
relative gene expression data using real-time quantitative PCR and
the 2(-Delta C(T)) method. Methods. 25:402–408. 2001.PubMed/NCBI View Article : Google Scholar
|
|
27
|
Yagi T and Takeichi M: Cadherin
superfamily genes: Functions, genomic organization, and neurologic
diversity. Genes Dev. 14:1169–1180. 2000.PubMed/NCBI
|
|
28
|
Vandervore L, Stouffs K, Tanyalçin I,
Vanderhasselt T, Roelens F, Holder-Espinasse M, Jørgensen A, Pepin
MG, Petit F, Van Kien PK, et al: Bi-allelic variants in COL3A1
encoding the ligand to GPR56 are associated with cobblestone-like
cortical malformation, white matter changes and cerebellar cysts. J
Med Genet. 54:432–440. 2017.PubMed/NCBI View Article : Google Scholar
|
|
29
|
Graeber CP, Hunter DG and Engle EC: The
genetic basis of incomitant strabismus: Consolidation of the
current knowledge of the genetic foundations of disease. Semin
Ophthalmol. 28:427–437. 2013.PubMed/NCBI View Article : Google Scholar
|
|
30
|
Engle EC: The genetic basis of complex
strabismus. Pediatr Res. 59:343–348. 2006.PubMed/NCBI View Article : Google Scholar
|
|
31
|
Marillat V, Sabatier C, Failli V,
Matsunaga E, Sotelo C, Tessier-Lavigne M and Chédotal A: The slit
receptor Rig-1/Robo3 controls midline crossing by hindbrain
precerebellar neurons and axons. Neuron. 43:69–79. 2004.PubMed/NCBI View Article : Google Scholar
|
|
32
|
Seeger M, Tear G, Ferres-Marco D and
Goodman CS: Mutations affecting growth cone guidance in Drosophila:
Genes necessary for guidance toward or away from the midline.
Neuron. 10:409–426. 1993.PubMed/NCBI View Article : Google Scholar
|
|
33
|
Ye XC, Pegado V, Patel MS and Wasserman
WW: Strabismus genetics across a spectrum of eye misalignment
disorders. Clin Genet. 86:103–111. 2014.PubMed/NCBI View Article : Google Scholar
|
|
34
|
Quoc EB and Milleret C: Origins of
strabismus and loss of binocular vision. Front Integr Neurosci.
8(71)2014.PubMed/NCBI View Article : Google Scholar
|
|
35
|
Payne BR, Berman N and Murphy EH: A
quantitative assessment of eye alignment in cats after corpus
callosum transection. Exp Brain Res. 43:371–376. 1981.PubMed/NCBI View Article : Google Scholar
|
|
36
|
Elberger AJ and Hirsch HV: Divergent
strabismus following neonatal callosal section is due to a failure
of convergence. Brain Res. 239:275–278. 1982.PubMed/NCBI View Article : Google Scholar
|
|
37
|
Chan S, Tang K, Lam K, Chan L, Mendola JD
and Kwong KK: Neuroanatomy of adult strabismus: A voxel-based
morphometric analysis of magnetic resonance structural scans.
Neuroimage. 22:986–994. 2004.PubMed/NCBI View Article : Google Scholar
|
|
38
|
Buzsáki G, Logothetis N and Singer W:
Scaling brain size, keeping timing: Evolutionary preservation of
brain rhythms. Neuron. 80:751–764. 2013.PubMed/NCBI View Article : Google Scholar
|
|
39
|
Katori S, Hamada S, Noguchi Y, Fukuda E,
Yamamoto T, Yamamoto H, Hasegawa S and Yagi T: Protocadherin-family
is required for serotonergic projections to appropriately innervate
target brain areas. J Neurosci. 29:9137–9147. 2009.PubMed/NCBI View Article : Google Scholar
|
|
40
|
Meguro R, Hishida R, Tsukano H, Yoshitake
K, Imamura R, Tohmi M, Kitsukawa T, Hirabayashi T, Yagi T,
Takebayashi H and Shibuki K: Impaired clustered protocadherin-α
leads to aggregated retinogeniculate terminals and impaired visual
acuity in mice. J Neurochem. 133:66–72. 2015.PubMed/NCBI View Article : Google Scholar
|
|
41
|
Jeong SJ, Li S, Luo R, Strokes N and Piao
X: Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV,
results in neocortical dyslamination. PLoS One.
7(e29767)2012.PubMed/NCBI View Article : Google Scholar
|
|
42
|
Shao W, Halachmi S and Brown M: ERAP140, a
conserved tissue-specific nuclear receptor coactivator. Mol Cell
Biol. 22:3358–3372. 2002.PubMed/NCBI View Article : Google Scholar
|
|
43
|
Arai H, Ozaki T, Niizuma H, Nakamura Y,
Ohira M, Takano K, Matsumoto M and Nakagawara A: ERAP140/Nbla10993
is a novel favorable prognostic indicator for neuroblastoma induced
in response to retinoic acid. Oncol Rep. 19:1381–1388.
2008.PubMed/NCBI
|
|
44
|
Castroflorio E, den Hoed J, Svistunova D,
Finelli MJ, Cebrian-Serrano A, Corrochano S, Bassett AR, Davies B
and Oliver PL: The Ncoa7 locus regulates V-ATPase formation and
function, neurodevelopment and behaviour. Cell Mol Life Sci.
78:3503–3524. 2021.PubMed/NCBI View Article : Google Scholar
|
|
45
|
Smith LT, Schwarze U, Goldstein J and
Byers PH: Mutations in the COL3A1 gene result in the Ehlers-Danlos
syndrome type IV and alterations in the size and distribution of
the major collagen fibrils of the dermis. J Invest Dermatol.
108:241–247. 1997.PubMed/NCBI View Article : Google Scholar
|
|
46
|
Fukuda E, Hamada S, Hasegawa S, Katori S,
Sanbo M, Miyakawa T, Yamamoto T, Yamamoto H, Hirabayashi T and Yagi
T: Down-regulation of protocadherin-alpha A isoforms in mice
changes contextual fear conditioning and spatial working memory.
Eur J Neurosci. 28:1362–1376. 2008.PubMed/NCBI View Article : Google Scholar
|
|
47
|
Hasegawa S, Hamada S, Kumode Y, Esumi S,
Katori S, Fukuda E, Uchiyama Y, Hirabayashi T, Mombaerts P and Yagi
T: The protocadherin-alpha family is involved in axonal coalescence
of olfactory sensory neurons into glomeruli of the olfactory bulb
in mouse. Mol Cell Neurosci. 38:66–79. 2008.PubMed/NCBI View Article : Google Scholar
|
|
48
|
Liu X, Wu H, Byrne M, Krane S and Jaenisch
R: Type III collagen is crucial for collagen I fibrillogenesis and
for normal cardiovascular development. Proc Natl Acad Sci USA.
94:1852–1856. 1997.PubMed/NCBI View Article : Google Scholar
|
|
49
|
Smith LB, Hadoke PW, Dyer E, Denvir MA,
Brownstein D, Miller E, Nelson N, Wells S, Cheeseman M and
Greenfield A: Haploinsufficiency of the murine Col3a1 locus causes
aortic dissection: A novel model of the vascular type of
Ehlers-Danlos syndrome. Cardiovasc Res. 90:182–190. 2011.PubMed/NCBI View Article : Google Scholar
|
