Details of Disease

General Information of Disease (ID: DISV80CD)

Disease Name Isolated cleft palate
Synonyms cleft palate, isolated; cleft palate; CPI; dominant cleft palate; isolated cleft palate; nonsyndromic cleft palate
Definition A cleft palate that is not part of a larger syndrome.
Disease Hierarchy
DIS6G5TF: Cleft palate
DISV80CD: Isolated cleft palate
Disease Identifiers
MONDO ID
MONDO_0007336
UMLS CUI
C1837218
OMIM ID
119540
MedGen ID
332392

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 105 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
UBB OT680561 No Known Autosomal dominant [1]
ARID5B OTUQ4CQY No Known Unknown [1]
MIB1 OT5C404P No Known Unknown [2]
MORN5 OTC7R3YL No Known Unknown [31]
ACACB OT96UIP1 Limited Unknown [2]
COL2A1 OT5E59C8 Limited Biomarker [32]
DENND4B OTFEO8KG Limited Unknown [33]
DLX5 OTEEFBEU Limited Genetic Variation [34]
FOXF2 OTV20NGX Limited Biomarker [35]
GABRB3 OT80C3D4 Limited Genetic Variation [36]
GOLGB1 OT2S0GK8 Limited Genetic Variation [37]
HAND2 OTCXYW4Y Limited Genetic Variation [38]
IFT88 OTDR3VBD Limited Genetic Variation [39]
MN1 OTVQR4R9 Limited Biomarker [40]
NHLH1 OTXN5B9R Limited Genetic Variation [41]
OSR2 OTYG371T Limited Genetic Variation [42]
PDGFRA OTDJXUCN Limited Unknown [3]
SOX11 OT4LG7LA Limited Genetic Variation [43]
TP63 OT0WOOKQ Limited Altered Expression [4]
AXIN2 OTRMGQNU moderate Altered Expression [44]
CKAP4 OTDUC9ME moderate Altered Expression [4]
CRISPLD2 OTVSFHTL moderate Genetic Variation [45]
LEF1 OTWS5I5H moderate Biomarker [46]
MEIS2 OTG4ADLM moderate Genetic Variation [47]
PAX9 OT25J0F7 moderate Biomarker [48]
ADAMTS20 OTU0EKLN Strong Biomarker [49]
ADAMTS9 OTV3Q0DS Strong Biomarker [49]
ALX3 OTXZ25PZ Strong Genetic Variation [20]
AMIGO2 OTPAIT1O Strong Biomarker [32]
ARHGAP29 OT8JH4TY Strong Biomarker [50]
ATRNL1 OTY5JUX2 Strong Genetic Variation [51]
BHMT OTYB6PXZ Strong Genetic Variation [52]
BHMT2 OTWYGLDU Strong Biomarker [18]
BNC2 OTU22H9Z Strong Biomarker [53]
BRWD3 OT3BM9B0 Strong Genetic Variation [54]
CANT1 OT1TPWQR Strong Genetic Variation [55]
CASK OT8EF7ZF Strong Biomarker [56]
CBFB OTIAC6W4 Strong Biomarker [57]
CHD7 OTHNIZWZ Strong Biomarker [58]
CILK1 OTWOYEYP Strong Biomarker [59]
CRNKL1 OTWBQNGU Strong Biomarker [60]
DCD OTV5PBGJ Strong Biomarker [61]
DDX59 OTHJANS0 Strong Genetic Variation [62]
DLG1 OTCRZYWT Strong Biomarker [63]
DLX6 OT0FIJHY Strong Genetic Variation [34]
DUSP22 OTEZ3U85 Strong Biomarker [64]
EVC2 OTY0M5SD Strong Genetic Variation [65]
FGD1 OTV3T64P Strong Genetic Variation [21]
FGF16 OT6BHWZP Strong Posttranslational Modification [66]
FGF3 OT9PK2SI Strong Biomarker [12]
FGF9 OT2SKDGM Strong Biomarker [12]
FOXE1 OT5IR5IT Strong Biomarker [67]
FZD4 OTGLZIE0 Strong Biomarker [68]
GAS1 OTKJXG52 Strong Biomarker [69]
GTPBP4 OT6ZHAWC Strong Genetic Variation [70]
HOXA2 OT6G6ZIK Strong Genetic Variation [71]
ITM2A OT590V63 Strong Genetic Variation [54]
JARID2 OT14UM8H Strong Genetic Variation [72]
KIF21A OT511XD9 Strong Genetic Variation [73]
KIF3A OTMUBSSK Strong Altered Expression [74]
KIF7 OT1J6NAW Strong Biomarker [75]
KMT2D OTTVHCLY Strong CausalMutation [76]
LOXL3 OTLLY1QI Strong Genetic Variation [77]
LRMDA OTIPNKTU Strong Biomarker [16]
MEOX2 OTKZCJCB Strong Genetic Variation [78]
MNT OTPC4ANL Strong Biomarker [79]
MSX1 OT5U41ZP Strong Genetic Variation [80]
MTHFS OTZ39JNR Strong Biomarker [18]
MYF5 OTTVO2S5 Strong Biomarker [81]
NECTIN1 OTTE5ZR6 Strong Genetic Variation [82]
NEDD4L OT1B19RU Strong Genetic Variation [83]
NXF2 OTJS5KTH Strong Biomarker [84]
NXF3 OTI0RW72 Strong Biomarker [84]
PDLIM3 OTVXQC81 Strong Genetic Variation [51]
PDS5B OT3U3X8Z Strong Biomarker [85]
PIF1 OTUHKKVP Strong Biomarker [61]
POU3F4 OTKF5AF7 Strong Biomarker [54]
PRH1 OTQZ6HX0 Strong Biomarker [86]
PTCH1 OTMG07H5 Strong Biomarker [87]
RBFOX2 OTXY1WVH Strong Altered Expression [88]
RBM10 OTES2MES Strong Genetic Variation [89]
RBM33 OT4JQ9YG Strong Biomarker [90]
RPL5 OTM8EBRI Strong Genetic Variation [91]
RYK OTZ3WWZH Strong Genetic Variation [9]
SAG OTDNS3ZQ Strong Biomarker [92]
SATB2 OT2W80XC Strong Biomarker [93]
SEPTIN10 OTPPNZUA Strong Biomarker [94]
SHOC2 OTUNQ2CT Strong Genetic Variation [95]
SIAH2 OTKED2XN Strong Altered Expression [96]
SIM2 OT0QWHK4 Strong Biomarker [97]
SIX2 OTYOVGSC Strong Genetic Variation [98]
SMC1A OT9ZMRK9 Strong Biomarker [99]
SMOC1 OTJG2JQY Strong Genetic Variation [100]
SPRY2 OTH0CRCZ Strong Biomarker [101]
STN1 OT8UWRA3 Strong Genetic Variation [102]
STX2 OTO2IDDR Strong Biomarker [103]
TBX1 OTQLBPRA Strong Biomarker [104]
TBX22 OTT1RM26 Strong Posttranslational Modification [66]
TCOF1 OT4BOYTM Strong Biomarker [105]
TIGAR OTR7NMRJ Strong Genetic Variation [106]
TNS1 OTZ8S1PL Strong Biomarker [107]
TTF2 OT5LJOWM Strong Genetic Variation [108]
GRHL3 OT1V4ZEH Definitive Biomarker [109]
SC5D OT41KMW4 Definitive Altered Expression [110]
SUMO1 OTJFD4P5 Definitive Biomarker [111]
------------------------------------------------------------------------------------
⏷ Show the Full List of 105 DOT(s)
This Disease Is Related to 34 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ACACB TTY84UG Limited Unknown [2]
PDGFRA TT8FYO9 Limited Unknown [3]
RPE65 TTBOH16 moderate Altered Expression [4]
CDKN1C TTBSUAR Strong Biomarker [5]
CHUK TT1F8OQ Strong Biomarker [6]
EGF TTED8JB Strong Biomarker [7]
EPHA4 TTG84D3 Strong Genetic Variation [8]
EPHB3 TT5LM7U Strong Biomarker [9]
F13A1 TTXI2RA Strong Biomarker [10]
FAF1 TTSKL3G Strong Biomarker [11]
FGF2 TTGKIED Strong Biomarker [12]
FGF7 TTFY134 Strong Biomarker [12]
FGF8 TTIUF3J Strong Biomarker [12]
FGFR2 TTGJVQM Strong Biomarker [13]
FGFR3 TTST7KB Strong Biomarker [12]
GREM1 TTOUZN5 Strong Genetic Variation [14]
JAG2 TTOJY1B Strong Genetic Variation [15]
KAT6B TTH4VJL Strong Biomarker [16]
LRRC32 TT0FAYT Strong Genetic Variation [17]
MTR TTUTO39 Strong Biomarker [18]
MYC TTNQ5ZP Strong Biomarker [19]
NOS3 TTCM4B3 Strong Biomarker [18]
PDGFC TTOABM9 Strong Biomarker [20]
PDGFRA TT8FYO9 Strong Biomarker [3]
PHF8 TT81PFE Strong Genetic Variation [21]
RARG TT1Q3IE Strong Biomarker [22]
SLC19A1 TT09I7D Strong Biomarker [18]
SLC2A9 TTIF3GB Strong Biomarker [23]
SRGN TTCHB06 Strong Biomarker [24]
TFAP2A TTDY4BS Strong CausalMutation [25]
TGFB2 TTI0KH6 Strong Biomarker [26]
TGFB3 TTWOMY8 Strong Genetic Variation [27]
TKTL1 TTNQ1J3 Strong Altered Expression [28]
TYMS TTP1UKZ Strong Genetic Variation [29]
------------------------------------------------------------------------------------
⏷ Show the Full List of 34 DTT(s)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC32A1 DTXQYLR Strong Biomarker [30]
------------------------------------------------------------------------------------

References

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2 Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing. J Dent Res. 2017 Oct;96(11):1314-1321. doi: 10.1177/0022034517722761. Epub 2017 Aug 2.
3 PDGFRa mutations in humans with isolated cleft palate. Eur J Hum Genet. 2012 Oct;20(10):1058-62. doi: 10.1038/ejhg.2012.55. Epub 2012 Apr 4.
4 Periderm: Life-cycle and function during orofacial and epidermal development.Semin Cell Dev Biol. 2019 Jul;91:75-83. doi: 10.1016/j.semcdb.2017.08.021. Epub 2017 Aug 10.
5 Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. Hum Mutat. 2015 Sep;36(9):894-902. doi: 10.1002/humu.22824. Epub 2015 Aug 6.
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7 Teratogenicity of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) in mice lacking the expression of EGF and/or TGF-alpha.Toxicol Sci. 2001 Jul;62(1):103-14. doi: 10.1093/toxsci/62.1.103.
8 De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):507-11. doi: 10.1002/bdra.23246. Epub 2014 Apr 18.
9 A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate.Cleft Palate Craniofac J. 2006 May;43(3):310-6. doi: 10.1597/04-145.1.
10 Is there a genetic relationship between epilepsy and birth defects?.Neurology. 1992 Apr;42(4 Suppl 5):63-7.
11 FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.Am J Hum Genet. 2011 Feb 11;88(2):150-61. doi: 10.1016/j.ajhg.2011.01.003. Epub 2011 Feb 3.
12 Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases.Am J Med Genet A. 2007 Dec 15;143A(24):3228-34. doi: 10.1002/ajmg.a.31965.
13 A review of FGF signaling in palate development.Biomed Pharmacother. 2018 Jul;103:240-247. doi: 10.1016/j.biopha.2018.04.026. Epub 2018 Apr 24.
14 Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate.Cleft Palate Craniofac J. 2018 May;55(5):736-742. doi: 10.1177/1055665618754948. Epub 2018 Feb 28.
15 MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate.Eur J Oral Sci. 2010 Jun;118(3):213-20. doi: 10.1111/j.1600-0722.2010.00729.x.
16 De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl With Developmental Delay, Speech Delay, Congenital Cleft Palate, and Bilateral Hearing Impairment.Cleft Palate Craniofac J. 2017 May;54(3):343-350. doi: 10.1597/15-171. Epub 2016 Mar 31.
17 Homozygous stop-gain variant in LRRC32, encoding a TGF receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.Eur J Hum Genet. 2019 Aug;27(8):1315-1319. doi: 10.1038/s41431-019-0380-y. Epub 2019 Apr 11.
18 Folate pathway and nonsyndromic cleft lip and palate.Birth Defects Res A Clin Mol Teratol. 2011 Jan;91(1):50-60. doi: 10.1002/bdra.20740. Epub 2010 Dec 1.
19 Long-range enhancers regulating Myc expression are required for normal facial morphogenesis.Nat Genet. 2014 Jul;46(7):753-8. doi: 10.1038/ng.2971. Epub 2014 May 25.
20 Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia.PLoS One. 2009;4(4):e5385. doi: 10.1371/journal.pone.0005385. Epub 2009 Apr 29.
21 A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C as a positional candidate gene for autism.Am J Med Genet A. 2014 Dec;164A(12):3035-41. doi: 10.1002/ajmg.a.36752. Epub 2014 Sep 24.
22 Retinoic acid drives aryl hydrocarbon receptor expression and is instrumental to dioxin-induced toxicity during palate development.Environ Health Perspect. 2011 Nov;119(11):1590-5. doi: 10.1289/ehp.1003075. Epub 2011 Aug 1.
23 Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate.PLoS One. 2014 Feb 6;9(2):e88088. doi: 10.1371/journal.pone.0088088. eCollection 2014.
24 Expression analyses of human cleft palate tissue suggest a role for osteopontin and immune related factors in palatal development.Exp Mol Med. 2009 Feb 28;41(2):77-85. doi: 10.3858/emm.2009.41.2.010.
25 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.Ann Hum Genet. 2015 Mar;79(2):148-52. doi: 10.1111/ahg.12098. Epub 2015 Jan 15.
26 Strain-dependent effects of transforming growth factor-1 and 2 during mouse secondary palate development.Reprod Toxicol. 2014 Dec;50:129-33. doi: 10.1016/j.reprotox.2014.10.018. Epub 2014 Nov 1.
27 SMAD2 overexpression rescues the TGF-3 null mutant mice cleft palate by increased apoptosis.Differentiation. 2020 Jan-Feb;111:60-69. doi: 10.1016/j.diff.2019.10.001. Epub 2019 Oct 8.
28 Expression of transketolase-like gene 1 (TKTL1) depends on disease phase in patients with chronic myeloid leukaemia (CML).J Cancer Res Clin Oncol. 2014 Mar;140(3):411-7. doi: 10.1007/s00432-013-1579-x. Epub 2014 Jan 5.
29 Thymidylate synthase polymorphisms and risks of human orofacial clefts.Birth Defects Res A Clin Mol Teratol. 2013 Feb;97(2):95-100. doi: 10.1002/bdra.23114.
30 Genetic ablation of VIAAT in glycinergic neurons causes a severe respiratory phenotype and perinatal death.Brain Struct Funct. 2015 Sep;220(5):2835-49. doi: 10.1007/s00429-014-0829-2. Epub 2014 Jul 16.
31 MORN5 Expression during Craniofacial Development and Its Interaction with the BMP and TGF Pathways. Front Physiol. 2016 Aug 31;7:378. doi: 10.3389/fphys.2016.00378. eCollection 2016.
32 A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia.Eur J Med Genet. 2011 Jan-Feb;54(1):94-6. doi: 10.1016/j.ejmg.2010.09.008. Epub 2010 Oct 8.
33 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9.
34 A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence.PLoS Genet. 2014 Apr 3;10(4):e1004257. doi: 10.1371/journal.pgen.1004257. eCollection 2014 Apr.
35 A Shh-Foxf-Fgf18-Shh Molecular Circuit Regulating Palate Development.PLoS Genet. 2016 Jan 8;12(1):e1005769. doi: 10.1371/journal.pgen.1005769. eCollection 2016 Jan.
36 Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy.Neuropediatrics. 2019 Dec;50(6):378-381. doi: 10.1055/s-0039-1693143. Epub 2019 Jul 18.
37 Association between GOLGB1 tag-polymorphisms and nonsyndromic cleft palate only in the Brazilian population.Ann Hum Genet. 2018 Jul;82(4):227-231. doi: 10.1111/ahg.12242. Epub 2018 Feb 12.
38 Requirement of Hyaluronan Synthase-2 in Craniofacial and Palate Development.J Dent Res. 2019 Nov;98(12):1367-1375. doi: 10.1177/0022034519872478. Epub 2019 Sep 11.
39 Association of IFT88 gene variants with nonsyndromic cleft lip with or without cleft palate.Birth Defects Res. 2019 Jul 1;111(11):659-665. doi: 10.1002/bdr2.1504. Epub 2019 Apr 5.
40 Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate.Eur J Hum Genet. 2016 Jan;24(1):51-8. doi: 10.1038/ejhg.2015.65. Epub 2015 May 6.
41 Association of the WNT3 polymorphisms and non-syndromic cleft lip with or without cleft palate: evidence from a meta-analysis.Biosci Rep. 2018 Nov 23;38(6):BSR20181676. doi: 10.1042/BSR20181676. Print 2018 Dec 21.
42 Inactivation of Fgfr2 gene in mouse secondary palate mesenchymal cells leads to cleft palate.Reprod Toxicol. 2018 Apr;77:137-142. doi: 10.1016/j.reprotox.2018.03.004. Epub 2018 Mar 8.
43 Observation of Cleft Palate in an Individual with SOX11 Mutation: Indication of a Role for SOX11 in Human Palatogenesis.Cleft Palate Craniofac J. 2018 Mar;55(3):456-461. doi: 10.1177/1055665617739312. Epub 2017 Dec 14.
44 Modulating Wnt Signaling Rescues Palate Morphogenesis in Pax9 Mutant Mice.J Dent Res. 2017 Oct;96(11):1273-1281. doi: 10.1177/0022034517719865. Epub 2017 Jul 10.
45 Association Between CRISPLD2 Polymorphisms and the Risk of Nonsyndromic Clefts of the Lip and/or Palate: A Meta-analysis.Cleft Palate Craniofac J. 2018 Mar;55(3):328-334. doi: 10.1177/1055665617738995. Epub 2017 Dec 14.
46 Genome-Wide mRNA-Seq Profiling Reveals that LEF1 and SMAD3 Regulate Epithelial-Mesenchymal Transition Through the Hippo Signaling Pathway During Palatal Fusion.Genet Test Mol Biomarkers. 2019 Mar;23(3):197-203. doi: 10.1089/gtmb.2018.0221. Epub 2019 Feb 15.
47 MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype.Eur J Med Genet. 2020 Jan;63(1):103627. doi: 10.1016/j.ejmg.2019.01.017. Epub 2019 Feb 5.
48 The Function and Regulatory Network of Pax9 Gene in Palate Development.J Dent Res. 2019 Mar;98(3):277-287. doi: 10.1177/0022034518811861. Epub 2018 Dec 24.
49 ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.Hum Mol Genet. 2019 Dec 15;28(24):4053-4066. doi: 10.1093/hmg/ddz225.
50 Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.Birth Defects Res. 2017 Jan 20;109(1):27-37. doi: 10.1002/bdra.23596.
51 Oral administration of Nigella sativa oil and thymoquinone attenuates long term cisplatin treatment induced toxicity and oxidative damage in rat kidney.Biomed Pharmacother. 2017 Dec;96:912-923. doi: 10.1016/j.biopha.2017.12.007. Epub 2017 Dec 7.
52 Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.Am J Med Genet A. 2019 Jul;179(7):1260-1269. doi: 10.1002/ajmg.a.61183. Epub 2019 May 7.
53 Basonuclin 2 has a function in the multiplication of embryonic craniofacial mesenchymal cells and is orthologous to disco proteins.Proc Natl Acad Sci U S A. 2009 Aug 25;106(34):14432-7. doi: 10.1073/pnas.0905840106. Epub 2009 Aug 12.
54 A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency.BMC Med Genet. 2015 Sep 1;16:74. doi: 10.1186/s12881-015-0220-z.
55 IMPAD1 mutations in two Catel-Manzke like patients.Am J Med Genet A. 2012 Sep;158A(9):2183-7. doi: 10.1002/ajmg.a.35504. Epub 2012 Aug 6.
56 Murine CASK is disrupted in a sex-linked cleft palate mouse mutant.Genomics. 1998 Oct 1;53(1):29-41. doi: 10.1006/geno.1998.5479.
57 Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome.Am J Med Genet A. 2006 Nov 1;140(21):2349-54. doi: 10.1002/ajmg.a.31479.
58 Craniofacial anomalies in twins.Plast Reconstr Surg. 1991 Jan;87(1):16-23. doi: 10.1097/00006534-199101000-00004.
59 Activation of sonic hedgehog signaling by a Smoothened agonist restores congenital defects in mouse models of endocrine-cerebro-osteodysplasia syndrome.EBioMedicine. 2019 Nov;49:305-317. doi: 10.1016/j.ebiom.2019.10.016. Epub 2019 Oct 26.
60 Wnt9b is the mutated gene involved in multifactorial nonsyndromic cleft lip with or without cleft palate in A/WySn mice, as confirmed by a genetic complementation test.Birth Defects Res A Clin Mol Teratol. 2006 Aug;76(8):574-9. doi: 10.1002/bdra.20302.
61 Proteolysis-inducing factor core peptide mediates dermcidin-induced proliferation of hepatic cells through multiple signalling networks.Int J Oncol. 2011 Sep;39(3):709-18. doi: 10.3892/ijo.2011.1064. Epub 2011 Jun 3.
62 Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families.Eur J Med Genet. 2017 Oct;60(10):527-532. doi: 10.1016/j.ejmg.2017.07.009. Epub 2017 Jul 12.
63 Craniofacial dysmorphogenesis including cleft palate in mice with an insertional mutation in the discs large gene.Mol Cell Biol. 2001 Mar;21(5):1475-83. doi: 10.1128/MCB.21.5.1475-1483.2001.
64 Genome-wide DNA methylation profiles according to Chlamydophila psittaci infection and the response to doxycycline treatment in ocular adnexal lymphoma.Mol Vis. 2014 Jul 19;20:1037-47. eCollection 2014.
65 Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.Eur J Hum Genet. 2010 Jun;18(6):726-32. doi: 10.1038/ejhg.2009.228. Epub 2010 Jan 20.
66 DNA hypermethylation of Fgf16 and Tbx22 associated with cleft palate during palatal fusion.J Appl Oral Sci. 2019 Oct 7;27:e20180649. doi: 10.1590/1678-7757-2018-0649. eCollection 2019.
67 A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expression.Thyroid. 2014 Apr;24(4):649-54. doi: 10.1089/thy.2013.0417. Epub 2014 Jan 23.
68 Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement.Am J Med Genet A. 2006 Dec 15;140(24):2721-9. doi: 10.1002/ajmg.a.31498.
69 Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog.J Clin Invest. 2007 Jun;117(6):1575-84. doi: 10.1172/JCI32032. Epub 2007 May 24.
70 A Population-Based Study of Effects of Genetic Loci on Orofacial Clefts.J Dent Res. 2017 Oct;96(11):1322-1329. doi: 10.1177/0022034517716914. Epub 2017 Jun 29.
71 Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology.Clin Genet. 2017 May;91(5):774-779. doi: 10.1111/cge.12845. Epub 2016 Sep 13.
72 Brazilian multicenter study of association between polymorphisms in CRISPLD2 and JARID2 and non-syndromic oral clefts.J Oral Pathol Med. 2017 Mar;46(3):232-239. doi: 10.1111/jop.12470. Epub 2016 Jun 21.
73 Phenotype-genotype correlation in two patients with 12q proximal deletion.J Hum Genet. 2004;49(5):282-4. doi: 10.1007/s10038-004-0144-5.
74 The correlative hypotheses between Pitchfork and Kif3a in palate development.Med Hypotheses. 2019 May;126:23-25. doi: 10.1016/j.mehy.2019.03.005. Epub 2019 Mar 12.
75 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet. 2011 Jun;43(6):601-6. doi: 10.1038/ng.826. Epub 2011 May 8.
76 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.Genet Med. 2016 Nov;18(11):1090-1096. doi: 10.1038/gim.2016.1. Epub 2016 Mar 3.
77 Association between a common missense variant in LOXL3 gene and the risk of non-syndromic cleft palate.Congenit Anom (Kyoto). 2018 Jul;58(4):136-140. doi: 10.1111/cga.12288. Epub 2018 Jun 11.
78 Association of MEOX2 polymorphism with nonsyndromic cleft palate only in a Vietnamese population.Congenit Anom (Kyoto). 2018 Jul;58(4):124-129. doi: 10.1111/cga.12259. Epub 2017 Nov 28.
79 Loss of the Max-interacting protein Mnt in mice results in decreased viability, defective embryonic growth and craniofacial defects: relevance to Miller-Dieker syndrome.Hum Mol Genet. 2004 May 15;13(10):1057-67. doi: 10.1093/hmg/ddh116. Epub 2004 Mar 17.
80 Association between CDH1 and MSX1 gene polymorphisms and the risk of nonsyndromic cleft lip and/or cleft palate in a southeast Iranian population.Cleft Palate Craniofac J. 2013 Sep;50(5):e98-e104. doi: 10.1597/12-144. Epub 2012 Dec 11.
81 Altered binding of MYF-5 to FOXE1 promoter in non-syndromic and CHARGE-associated cleft palate.J Oral Pathol Med. 2009 Jan;38(1):18-23. doi: 10.1111/j.1600-0714.2008.00726.x.
82 Novel insertion mutation in the PVRL1 gene in Turkish patients with non-syndromic cleft lip with/without cleft palate.Arch Oral Biol. 2014 Mar;59(3):237-40. doi: 10.1016/j.archoralbio.2013.11.016. Epub 2013 Dec 7.
83 Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate.J Hum Genet. 2019 Jul;64(7):701-702. doi: 10.1038/s10038-019-0610-8.
84 Respiratory failure, cleft palate and epilepsy in the mouse model of human Xq22.1 deletion syndrome.Hum Mol Genet. 2014 Jul 15;23(14):3823-9. doi: 10.1093/hmg/ddu095. Epub 2014 Feb 25.
85 Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies.PLoS One. 2009;4(5):e5232. doi: 10.1371/journal.pone.0005232. Epub 2009 May 1.
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91 Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet. 2008 Dec;83(6):769-80. doi: 10.1016/j.ajhg.2008.11.004.
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102 Structural Analysis and Conformational Dynamics of STN1 Gene Mutations Involved in Coat Plus Syndrome.Front Mol Biosci. 2019 Jun 12;6:41. doi: 10.3389/fmolb.2019.00041. eCollection 2019.
103 Inhibition of periderm removal in all-trans retinoic acid-induced cleft palate in mice.Exp Ther Med. 2017 Oct;14(4):3393-3398. doi: 10.3892/etm.2017.4938. Epub 2017 Aug 16.
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106 Validation of Demographics, Etiology, and Risk Factors for Chronic Pancreatitis in the USA: A Report of the North American Pancreas Study (NAPS) Group.Dig Dis Sci. 2017 Aug;62(8):2133-2140. doi: 10.1007/s10620-017-4621-z. Epub 2017 Jun 9.
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109 A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals.Genet Epidemiol. 2019 Sep;43(6):704-716. doi: 10.1002/gepi.22214. Epub 2019 Jun 6.
110 Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Hum Mol Genet. 2003 Jul 1;12(13):1631-41. doi: 10.1093/hmg/ddg172.
111 SUMO1 haploinsufficiency leads to cleft lip and palate. Science. 2006 Sep 22;313(5794):1751. doi: 10.1126/science.1128406.