[1] AVELAR J M.Classification of congenital anomalies of the ear[M]//AVELAR J M.Ear reconstruction.Cham:Springer,2017:13-24.
[2] 陈伟,陈磊,杨仕明.荣昌猪遗传性听力缺陷家系的发掘与应用[J].中华耳科杂志,2016,14(1):10-14.
[3] 潘博,乔瑞敏,杨美蓉,等.双侧外耳缺失伴发外耳道闭锁猪动物模型的鉴定及其应用[J].中华整形外科杂志,2018,34(3):232-236.
[4] WEI W H,DE KONING D J,PENMAN J C,et al.QTL modulating ear size and erectness in pigs[J].Animal Genetics,2007,38(3):222-226.
[5] 郭晓令,CHRISTIAN L,NORBERT R,等.利用商品猪群定位猪耳型QTL[J].遗传学报,2004,31(8):819-821.
[6] GOSWAMI M,BHUSHAN U,JANGRA B.Goldenhar syndrome:a case report with review[J].International Journal of Clinical Pediatric Dentistry,2016,9(3):278-280.
[7] 卢萌,林琳,蒋海越.先天性小耳畸形伴发畸形的研究进展[J].中国美容整形外科杂志,2018,29(4):236-239.
[8] DENG K,DAI L,YI L,et al.Epidemiologic characteristics and time trend in the prevalence of anotia and microtia in China[J].Birth Defects Research Part A:Clinical and Molecular Teratology,2016,106(2):88-94.
[9] CUNNINGHAM T J,DUESTER G.Mechanisms of retinoic acid signalling and its roles in organ and limb development[J].Nature Reviews Molecular Cell Biology,2015,16(2):110-123.
[10] METZLER M A,SANDELL L L.Enzymatic metabolism of vitamin A in developing vertebrate embryos[J].Nutrients,2016,8(12):812.
[11] ROCHETTE-EGLY C.Retinoic acid signaling and mouse embryonic stem cell differentiation:cross talk between genomic and non-genomic effects of RA[J].Biochimica et Biophysica Acta:Molecular and Cell Biology of Lipids,2015,1851(1):66-75.
[12] ROCHTUS A,IZZI B,VANGEEL E,et al.DNA methylation analysis of homeobox genes implicates
HOXB7 hypomethylation as risk factor for neural tube defects[J].Epigenetics,2015,10(1):92-101.
[13] SIMEONE A,ACAMPORA D,NIGRO V,et al.Differential regulation by retinoic acid of the homeobox genes of the four
HOX loci in human embryonal carcinoma cells[J].Mechanisms of Development,1991,33(3):215-227.
[14] HUSSAIN I,BHAN A,ANSARI K I,et al.Bisphenol-A induces expression of
HOXC6,an estrogen-regulated homeobox-containing gene associated with breast cancer[J].Biochimica et Biophysica Acta:Gene Regulatory Mechanisms,2015,1849(6):697-708.
[15] 张卓,王川,陈军宝.半侧颜面短小畸形的病因学研究进展[J].组织工程与重建外科杂志,2017,13(1):51-53.
[16] DAVIS A,REUBENS M C,STELLWAG E J.Functional and comparative genomics of
Hoxa2 gene cis-regulatory elements:evidence for evolutionary modification of ancestral core element activity[J].Journal of Developmental Biology,2016,4(2):15.
[17] TRAINOR P A,TAM P P.Cranial paraxial mesoderm and neural crest cells of the mouse embryo:co-distribution in the craniofacial mesenchyme but distinct segregation in branchial arches[J].Development,1995,121(8):2569-2582.
[18] KÖNTGES G,LUMSDEN A.Rhombencephalic neural crest segmentation is preserved throughout craniofacial ontogeny[J].Development,1996,122(10):3229-3242.
[19] KULESA P,ELLIES D L,TRAINOR P A.Comparative analysis of neural crest cell death,migration,and function during vertebrate embryogenesis[J].Developmental Dynamics,2004,229(1):14-29.
[20] SHAO M Y,LIU C,SOMH Y N,et al.FGF8 signaling sustains progenitor status and multipotency of cranial neural crest-derived mesenchymal cells
in vivo and
in vitro[J].Journal of Molecular Cell Biology,2015,7(5):441-454.
[21] KITAZAWA T,FUJISAWA K,NARBOUX-NÊME N,et al.Distinct effects of
Hoxa2 overexpression in cranial neural crest populations reveal that the mammalian hyomandibular-ceratohyal boundary maps within the styloid process[J].Developmental Biology,2015,402(2):162-174.
[22] 魏建军,潘博,于晓波,等.小耳畸形的"二期法"耳廓再造术[J].组织工程与重建外科杂志,2010,6(5):276-278.
[23] 王君芳,王佳琦,毕庆伟,等.神经嵴细胞发育分子调控网络的生物信息学分析[J].中国组织工程研究,2016,20(24):3621-3627.
[24] DAVIS A,REUBENS M C,STELLWAG E J.Functional and comparative genomics of
Hoxa2 gene cis-regulatory elements:evidence for evolutionary modification of ancestral core element activity[J].Journal of Developmental Biology,2016,4(2):15.
[25] WATT F M,HOGAN B L M.Out of Eden:stem cells and their niches[J].Science,2000,287(5457):1427-1430.
[26] CHISAKA O,MUSCI T S,CAPECCHI M R.Developmental defects of the ear,cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox gene
Hox-1.6[J].Nature,1992,355(6360):516-520.
[27] 吴荣薇,潘博.小耳畸形的流行病学和遗传学研究进展[J].中华临床医师杂志(电子版),2013,7(1):152-154.
[28] MARTINEZ-CEBALLOS E,CHAMBON P,GUDAS L J.Differences in gene expression between wild type and
Hoxa1 knockout embryonic stem cells after retinoic acid treatment or leukemia inhibitory factor (LIF) removal[J].Journal of Biological Chemistry,2005,280(16):16484-16498.
[29] BONCINELLI E,SIMEONE A,ACAMPORA D,et al.
HOX gene activation by retinoic acid[J].Trends in Genetics,1991,7(10):329-334.
[30] WENDLING O,DENNEFELD C,CHAMBON P,et al.Retinoid signaling is essential for patterning the endoderm of the third and fourth pharyngeal arches[J].Development,2000,127(8):1553-1562.
[31] GUDAS L J,WAGNER J A.Retinoids regulate stem cell differentiation[J].Journal of Cellular Physiology,2011,226(2):322-330.
[32] DAS B C,THAPA P,KARKI R,et al.Retinoic acid signaling pathways in development and diseases[J].Bioorganic & Medicinal Chemistry,2014,22(2):673-683.
[33] GREEN A C,MARTIN T J,PURTON L E.The role of vitamin A and retinoic acid receptor signaling in post-natal maintenance of bone[J].The Journal of Steroid Biochemistry and Molecular Biology,2016,155:135-146.
[34] CAÑETE A,CANO E,MUÑOZ-CHÁPULI R,et al.Role of vitamin A/retinoic acid in regulation of embryonic and adult hematopoiesis[J].Nutrients,2017,9(2):159.
[35] ERKELENS M N,MEBIUS R E.Retinoic acid and immune homeostasis:a balancing act[J].Trends in Immunology,2017,38(3):168-180.
[36] MADEN M,GALE E,ZILE M.The role of vitamin A in the development of the central nervous system[J].The Journal of Nutrition,1998,128(2):471S-475S.
[37] ROMAND R,KREZEL W,BERANECK M,et al.Retinoic acid deficiency impairs the vestibular function[J].Journal of Neuroscience,2013,33(13):5856-5866.
[38] ROSS A C,ZOLFAGHARI R.Cytochrome P450s in the regulation of cellular retinoic acid metabolism[J].Annual Review of Nutrition,2011,31:65-87.
[39] THEODOSIOU M,LAUDET V,SCHUBERT M.From carrot to clinic:an overview of the retinoic acid signaling pathway[J].Cellular and Molecular Life Sciences,2010,67(9):1423-1445.
[40] KAM R K T,DENG Y,CHEN Y L,et al.Retinoic acid synthesis and functions in early embryonic development[J].Cell & Bioscience,2012,2:11.
[41] GU X X,XU F,WANG X L,et al.Molecular cloning and expression of a novel
CYP26 gene (
cyp26d1) during zebrafish early development[J].Gene Expression Patterns,2005,5(6):733-739.
[42] SAKAI Y,LUO T L,MCCAFFERY P,et al.CYP26A1 and CYP26C1 cooperate in degrading retinoic acid within the equatorial retina during later eye development[J].Developmental Biology,2004,276(1):143-157.
[43] TAKEUCHI H,YOKOTA A,OHOKA Y,et al.Cyp26b1 regulates retinoic acid-dependent signals in T cells and its expression is inhibited by transforming growth factor-β[J].PLoS One,2011,6(1):e16089.
[44] ABU-ABED S,DOLLÉ P,METZGER D,et al.The retinoic acid-metabolizing enzyme,CYP26A1,is essential for normal hindbrain patterning,vertebral identity,and development of posterior structures[J].Genes & Development,2001,15(2):226-240.
[45] YASHIRO K,ZHAO X L,UEHARA M,et al.Regulation of retinoic acid distribution is required for proximodistal patterning and outgrowth of the developing mouse limb[J].Developmental Cell,2004,6(3):411-422.
[46] MOLOTKOVA N,MOLOTKOV A,DUESTER G.Role of retinoic acid during forebrain development begins late when Raldh3 generates retinoic acid in the ventral subventricular zone[J].Developmental Biology,2007,303(2):601-610.
[47] PASQUALETTI M,NEUN R,DAVENNE M,et al.Retinoic acid rescues inner ear defects in
Hoxa1 deficient mice[J].Nature Genetics,2001,29(1):34-39.
[48] ROMAND R,DOLLÉ P,HASHINO E.Retinoid signaling in inner ear development[J].Developmental Neurobiology,2006,66(7):687-704.
[49] MARK M,GHYSELINCK N B,CHAMBON P.Function of retinoid nuclear receptors:lessons from genetic and pharmacological dissections of the retinoic acid signaling pathway during mouse embryogenesis[J].Annual Review of Pharmacology and Toxicology,2006,46:451-480.
[50] GRANSTRÖM G,KIRKEAY S.Prenatal diagnosis by isoenzymic differentiation of treacher Collins' syndrome induced by retinoids in rats[J].Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery,1990,24(3):177-183.
[51] LOURYAN S,GLINEUR R,DOUROV N.Induced and genetic mouse middle ear ossicular malformations:a model for human malformative ossicular diseases and a tool for clarifying their normal ontogenesis[J].Surgical and Radiologic Anatomy,1992,14(3):227-232.
[52] QUEMELO P R V,LOURENÇO C M,PERES L C.Teratogenic effect of retinoic acid in swiss mice[J].Acta Cirurgica Brasileira,2007,22(6):451-456.
[53] JARVIS B L,JOHNSTON M C,SULIK K K.Congenital malformations of the external middle,and inner ear produced by isotretinoin exposure in mouse embryos[J].Otolaryngology-Head and Neck Surgery,1990,102(4):391-401.
[54] WEI X,MAKORI N,PETERSON P E,et al.Pathogenesis of retinoic acid-induced ear malformations in a primate model[J].Teratology,1999,60(2):83-92.
[55] HENDRICKX A G,HUMMLER H.Teratogenicity of all-trans retinoic acid during early embryonic development in the cynomolgus monkey (
Macaca fascicularis)[J].Teratology,1992,45(1):65-74.
[56] BURK D T,WILLHITE C C.Inner ear malformations induced by isotretinoin in hamster fetuses[J].Teratology,1992,46(2):147-157.
[57] CAPECCHI M R.
Hox genes and mammalian development[J].Cold Spring Harbor Symposia on Quantitative Biology,1997,62:273-281.
[58] IIMURA T,POURQUIÉ O.
Hox genes in time and space during vertebrate body formation[J].Development,Growth & Differentiation,2007,49(4):265-275.
[59] MURPHY P,HILL R E.Expression of the mouse labial-like homeobox-containing genes,
Hox 2.9 and
Hox 1.6,during segmentation of the hindbrain[J].Development,1991,111(1):61-74.
[60] 张天宇,李辰龙.先天性外中耳畸形(1)——发育生物学研究进展[J].听力学及言语疾病杂志,2018,26(2):223-226.
[61] 张天宇,陈颖.先天性外中耳畸形(2)——致病基因的研究现状[J].听力学及言语疾病杂志,2018,26(6):689-692.
[62] MARK M,LUFKIN T,VONESCH J L,et al.Two rhombomeres are altered in
Hoxa-1 mutant mice[J].Development,1993,119(2):319-338.
[63] GAVALAS A,STUDER M,LUMSDEN A,et al.
Hoxa1 and
Hoxb1 synergize in patterning the hindbrain,cranial nerves and second pharyngeal arch[J].Development,1998,125(6):1123-1136.
[64] TISCHFIELD M A,BOSLEY T M,SALIH M A,et al.Homozygous
HOXA1 mutations disrupt human brainstem,inner ear,cardiovascular and cognitive development[J].Nature Genetics,2005,37(10):1035-1037.
[65] KAUR S,SINGH G,STOCK J L,et al.Dominant mutation of the murine
Hox-2.2 gene results in developmental abnormalities[J].Journal of Experimental Zoology,1992,264(3):323-336.
[66] ALASTI F,SADEGHI A,SANATI M H,et al.A mutation in
HOXA2 is responsible for autosomal-recessive microtia in an Iranian family[J].The American Journal of Human Genetics,2008,82(4):982-991.
[67] PICECI F,MORLINO S,CASTORI M,et al.Identification of a second
HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology[J].Clinical Genetics,2017,91(5):774-779.
[68] Minoux M,KRATOCHWIL C F,DUCRET S,et al.Mouse
Hoxa2 mutations provide a model for microtia and auricle duplication[J].Development,2013,140(21):4386-4397.
[69] QIAO R M,HE Y Y,PAN B,et al.Understanding the molecular mechanisms of human microtia via a pig model of
HOXA1 syndrome[J].Disease Models & Mechanisms,2015,8(6):611-622.
[70] ROMAND R,HASHINO E,DOLLÉ P,et al.The retinoic acid receptors RARα and RARγ are required for inner ear development[J].Mechanisms of Development,2002,119(2):213-223.
[71] LAMANTIA A S,BHASIN N,RHODES K,et al.Mesenchymal/epithelial induction mediates olfactory pathway formation[J].Neuron,2000,28(2):411-425.
[72] MCCAFFERY P,DRÄGER U C.Regulation of retinoic acid signaling in the embryonic nervous system:a master differentiation factor[J].Cytokine & Growth Factor Reviews,2000,11(3):233-249.
[73] MCGINNIS W,KRUMLAUF R.Homeobox genes and axial patterning[J].Cell,1992,68(2):283-302.
[74] LANGSTON A W,GUDAS L J.Retinoic acid and homeobox gene regulation[J].Current Opinion in Genetics & Development,1994,4(4):550-555.
