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Pediatric Surgery International
Erschienen in: Pediatric Surgery International 9/2018

09.08.2018 | Original Article

A clinical-pathogenetic approach on associated anomalies and chromosomal defects supports novel candidate critical regions and genes for gastroschisis

verfasst von: Victor M. Salinas-Torres, Rafael A. Salinas-Torres, Ricardo M. Cerda-Flores, Hugo L. Gallardo-Blanco, Laura E. Martínez-de-Villarreal

Erschienen in: Pediatric Surgery International | Ausgabe 9/2018

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Abstract

Background

Gastroschisis has been assumed to have a low rate of syndromic and primary malformations. We aimed to systematically review and explore the frequency and type of malformations/chromosomal syndromes and to identify significant biological/genetic roles in gastroschisis.

Methods

Population-based, gastroschisis-associated anomalies/chromosomal defects published 1950–2018 (PubMed/MEDLINE) were independently searched by two reviewers. Associated anomalies/chromosomal defects and selected clinical characteristics were subdivided and pooled by race, system/region, isolated, and associated cases (descriptive analysis and chi-square test were performed). Critical regions/genes from representative chromosomal syndromes including an enrichment analysis using Gene Ontology Consortium/Panther Classification System databases were explored. Fisher’s exact test with False Discovery Rate multiple test correction was performed.

Results

Sixty-eight articles and 18525 cases as a base were identified (prevalence of 17.9 and 3% for associated anomalies/chromosomal defects, respectively). There were 3596 associated anomalies, prevailing those cardiovascular (23.3%) and digestive (20.3%). Co-occurring anomalies were associated with male, female, American Indian, Caucasian, prenatally diagnosed, chromosomal defects, and mortality (P < 0.00001). Gene clusters on 21q22.11 and 21q22.3 (KRTAP), 18q21.33 (SERPINB), 18q22.1 (CDH7, CDH19), 13q12.3 (FLT1), 13q22.1 (KLF5), 13q22.3 (EDNRB), and 13q34 (COL4A1, COL4A2, F7, F10) were significantly related to biological processes: blood pressure regulation and/or vessel integrity, angiogenesis, coagulation, cell–cell and/or cell-matrix adhesion, dermis integrity, and wound healing (P < 0.05).

Conclusions

Our findings suggest that gastroschisis may result from the interaction of several chromosomal regions in an additive manner as a pool of candidate genes were identified from critical regions supporting a role for vascular disruption, thrombosis, and mesodermal deficiency in the pathogenesis of gastroschisis.
Literatur
1.
Mastroiacovo P (2014) International clearinghouse for birth defects monitoring systems, Annual Report 2014. International Centre of Birth Defects, Rome
2.
Salinas-Torres VM, Salinas-Torres RA, Cerda-Flores RM, Martínez-de-Villarreal LE (2018) Prevalence, mortality, and spatial distribution of gastroschisis in Mexico. J Pediatr Adolesc Gynecol 31:232–237PubMedCrossRef
3.
Hunter AG, Stevenson RE (2008) Gastroschisis: clinical presentation and associations. Am J Med Genet C Semin Med Genet 148C:219–330PubMedCrossRef
4.
Akhtar J, Skarsgard ED, Canadian Pediatric Surgery Network (CAPSNet) (2012) Associated malformations and the “hidden mortality” of gastroschisis. J Pediatr Surg 47:911–916PubMedCrossRef
5.
Benjamin B, Wilson GN (2014) Anomalies associated with gastroschisis and omphalocele: analysis of 2825 cases from the Texas Birth Defects Registry. J Pediatr Surg 49:514–519PubMedCrossRef
6.
Salinas-Torres VM, Salinas-Torres RA, Cerda-Flores RM, Martínez-de-Villarreal LE (2018) Evaluation of familial factors in a Mexican population-based setting with gastroschisis: further evidence for an underlying genetic susceptibility. J Pediatr Surg 53:521–524PubMedCrossRef
7.
Salinas-Torres VM, Salinas-Torres RA, Cerda-Flores RM, Martínez-de-Villarreal LE (2018) Familial occurrence of gastroschisis: a population-based overview on recurrence risk, sex-dependent influence, and geographical distribution. Pediatr Surg Int 34:277–282PubMedCrossRef
8.
Salinas-Torres VM, Salinas-Torres RA, Cerda-Flores RM, Martínez-de-Villarreal LE (2018) Genetic variants conferring susceptibility to gastroschisis: a phenomenon restricted to the interaction wih the environment? Pediatr Surg Int 34:505–514PubMedCrossRef
9.
10.
Ashburner M, Ball CA, Blake JA et al (2000) Gene ontology: tool for the unification of biology. The Gene Ontology Consortium. Nat Genet 25:25–29PubMedPubMedCentralCrossRef
11.
12.
Colombani PM, Cunningham MD (1977) Perinatal aspects of omphalocele and gastroschisis. Am J Dis Child 131:1386–1388PubMed
13.
14.
Baird PA, MacDonald EC (1981) An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births. Am J Hum Genet 33:470–478PubMedPubMedCentral
15.
Klein MD, Kosloske AM, Hertzler JH (1981) Congenital defects of the abdominal wall. A review of the experience in New Mexico. JAMA 245:1643–1646PubMedCrossRef
16.
Hoyme HE, Higginbottom MC, Jones KL (1981) The vascular pathogenesis of gastroschisis: intrauterine interruption of the omphalomesenteric artery. J Pediatr 98:228–231PubMedCrossRef
17.
Bair JH, Russ PD, Pretorius DH, Manchester D, Manco-Johnson ML (1986) Fetal omphalocele and gastroschisis: a review of 24 cases. AJR Am J Roentgenol 147:1047–1051PubMedCrossRef
18.
Reid CO, Hall JG, Anderson C et al (1986) Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk. Am J Med Genet 24:701–710PubMedCrossRef
19.
Kaplan LM, Koyle MA, Kaplan GW, Farrer JH, Rajfer J (1986) Association between abdominal wall defects and cryptorchidism. J Urol 136:645–647PubMedCrossRef
20.
Gauderer MW (1987) Gastroschisis and extraabdominal ectopic testis: simultaneous repair. J Pediatr Surg 22:657–659PubMedCrossRef
21.
Fogel M, Copel JA, Cullen MT, Hobbins JC, Kleinman CS (1991) Congenital heart disease and fetal thoracoabdominal anomalies: associations in utero and the importance of cytogenetic analysis. Am J Perinatol 8:411–416PubMedCrossRef
22.
Aliotta PJ, Piedmonte M, Karp M, Greenfield SP (1992) Cryptorchidism in newborns with gastroschisis and omphalocele. Urology 40:84–86PubMedCrossRef
23.
Yang P, Beaty TH, Khoury MJ, Chee E, Stewart W, Gordis L (1992) Genetic-epidemiologic study of omphalocele and gastroschisis: evidence for heterogeneity. Am J Med Genet 44:668–675PubMedCrossRef
24.
Loder RT, Guiboux JP (1993) Musculoskeletal involvement in children with gastroschisis and omphalocele. J Pediatr Surg 28:584–590PubMedCrossRef
25.
Levard G, Laberge JM (1997) The fate of undescended testes in patients with gastroschisis. Eur J Pediatr Surg 7:163–165PubMedCrossRef
26.
27.
Reiss RE, Landon MB, Jayanthi VR, Caniano DA, Mutabagani K, O’Shaughnessy RW (2000) Functional urinary tract obstruction developing in fetuses with isolated gastroschisis. Ultrasound Obstet Gynecol 15:194–198PubMedCrossRef
28.
Salihu HM, Pierre-Louis BJ, Druschel CM, Kirby RS (2003) Omphalocele and gastroschisis in the State of New York, 1992–1999. Birth Defects Res A Clin Mol Teratol 67:630–636PubMedCrossRef
29.
Goldkrand JW, Causey TN, Hull EE (2004) The changing face of gastroschisis and omphalocele in southeast Georgia. J Matern Fetal Neonatal Med 15:331–335PubMedCrossRef
30.
Hwang PJ, Kousseff BG (2004) Omphalocele and gastroschisis: an 18-year review study. Genet Med 6:232–236PubMedCrossRef
31.
Curry CJ, Lammer EJ, Nelson V, Shaw GM (2005) Schizencephaly: heterogeneous etiologies in a population of 4 million California births. Am J Med Genet A 137:181–189PubMedCrossRef
32.
Kunz LH, Gilbert WM, Towner DR (2005) Increased incidence of cardiac anomalies in pregnancies complicated by gastroschisis. Am J Obstet Gynecol 193:1248–1252PubMedCrossRef
33.
Eggink BH, Richardson CJ, Malloy MH, Angel CA (2006) Outcome of gastroschisis: a 20-year case review of infants with gastroschisis born in Galveston, Texas. J Pediatr Surg 41:1103–1108PubMedCrossRef
34.
Abdullah F, Arnold MA, Nabaweesi R et al (2007) Gastroschisis in the United States 1988–2003: analysis and risk categorization of 4344 patients. J Perinatol 27:50–55PubMedCrossRef
35.
Heinrich JK, Machado IN, Vivas L et al (2007) Prenatal genomic profiling of abdominal wall defects through comparative genomic hybridization: perspectives for a new diagnostic tool. Fetal Diagn Ther 22:361–364PubMedCrossRef
36.
Forrester MB, Merz RD (2008) Structural birth defects associated with omphalocele and gastroschisis, Hawaii, 1986–2001. Congenit Anom (Kyoto) 48:87–91CrossRef
37.
Corey KM, Hornik CP, Laughon MM, McHutchison K, Clark RH, Smith PB (2014) Frequency of anomalies and hospital outcomes in infants with gastroschisis and omphalocele. Early Hum Dev 90:421–424PubMedPubMedCentralCrossRef
38.
Benjamin B, Wilson GN (2015) Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields. Am J Med Genet A 167A:2568–2581PubMedCrossRef
39.
Corona-Rivera JR, Nieto-García R, López-Marure E et al (2016) Associated congenital anomalies in infants with isolated gastroschisis: a single-institutional experience. Am J Med Genet A 170A:316–321PubMedCrossRef
40.
Feldkamp ML, Botto LD, Byrne JL, Krikov S, Carey JC (2016) Clinical presentation and survival in a population-based cohort of infants with gastroschisis in Utah, 1997–2011. Am J Med Genet A 170A:306–315PubMedCrossRef
41.
Lindham S (1981) Omphalocele and gastroschisis in Sweden 1965–1976. Acta Paediatr Scand 70:55–60PubMedCrossRef
42.
Nicolaides KH, Snijders RJ, Cheng HH, Gosden C (1992) Fetal gastro-intestinal and abdominal wall defects: associated malformations and chromosomal abnormalities. Fetal Diagn Ther 7:102–115PubMedCrossRef
43.
Claussen U, Ulmer R, Beinder E, Voigt HJ (1994) Six years’ experience with rapid karyotyping in prenatal diagnosis: correlations between phenotype detected by ultrasound and fetal karyotype. Prenat Diagn 14:113–121PubMedCrossRef
44.
Calzolari E, Bianchi F, Dolk H, Milan M (1995) Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980–1990. EUROCAT Working Group. Am J Med Genet 58:187–194PubMedCrossRef
45.
Nicholls EA, Ford WD, Barnes KH, Furness ME, Hayward C (1996) A decade of gastroschisis in the era of antenatal ultrasound. Aust N Z J Surg 66:366–368PubMedCrossRef
46.
Heydanus R, Raats MA, Tibboel D, Los FJ, Wladimiroff JW (1996) Prenatal diagnosis of fetal abdominal wall defects: a retrospective analysis of 44 cases. Prenat Diagn 16:411–417PubMedCrossRef
47.
Tan KH, Kilby MD, Whittle MJ, Beattie BR, Booth IW, Botting BJ (1996) Congenital anterior abdominal wall defects in England and Wales 1987–93: retrospective analysis of OPCS data. BMJ 313:903–906PubMedPubMedCentralCrossRef
48.
Rankin J, Dillon E, Wright C (1999) Congenital anterior abdominal wall defects in the north of England, 1986–1996: occurrence and outcome. Prenat Diagn 19:662–668PubMedCrossRef
49.
Axt R, Quijano F, Boos R et al (1999) Omphalocele and gastroschisis: prenatal diagnosis and peripartal management. A case analysis of the years 1989–1997 at the Department of Obstetrics and Gynecology, University of Homburg/Saar. Eur J Obstet Gynecol Reprod Biol 87:47–54PubMedCrossRef
50.
Kitchanan S, Patole SK, Muller R, Whitehall JS (2000) Neonatal outcome of gastroschisis and exomphalos: a 10-year review. J Paediatr Child Health 36:428–430PubMedCrossRef
51.
Barisic I, Clementi M, Häusler M et al (2001) Evaluation of prenatal ultrasound diagnosis of fetal abdominal wall defects by 19 European registries. Ultrasound Obstet Gynecol 18:309–316PubMedCrossRef
52.
Saxena AK, Hülskamp G, Schleef J, Schaarschmidt K, Harms E, Willital GH (2002) Gastroschisis: a 15-year, single-center experience. Pediatr Surg Int 18:420–424PubMedCrossRef
53.
Hsu CC, Lin SP, Chen CH (2002) Omphalocele and gastroschisis in Taiwan. Eur J Pediatr 161:552–555PubMedCrossRef
54.
Brantberg A, Blaas HG, Salvesen KA, Haugen SE, Eik-Nes SH (2004) Surveillance and outcome of fetuses with gastroschisis. Ultrasound Obstet Gynecol 23:4–13PubMedCrossRef
55.
Lee SE, Kim HY, Jung SE, Lee SC, Park KW, Kim WK (2006) Situs anomalies and gastrointestinal abnormalities. J Pediatr Surg 41:1237–1242PubMedCrossRef
56.
Mastroiacovo P, Lisi A, Castilla EE et al (2007) Gastroschisis and associated defects: an international study. Am J Med Genet A 143A:660–671PubMedCrossRef
57.
Tan KB, Tan KH, Chew SK, Yeo GS (2008) Gastroschisis and omphalocele in Singapore: a ten-year seriesfrom 1993 to 2002. Singapore Med J 49:31–36PubMed
58.
Stoll C, Alembik Y, Dott B, Roth MP (2008) Omphalocele and gastroschisis and associated malformations. Am J Med Genet A 146A:1280–1285PubMedCrossRef
59.
Fillingham A, Rankin J (2008) Prevalence, prenatal diagnosis and survival of gastroschisis. Prenat Diagn 28:1232–1237PubMedCrossRef
60.
Ruano R, Picone O, Bernardes L, Martinovic J, Dumez Y, Benachi A (2011) The association of gastroschisis with other congenital anomalies: how important is it? Prenat Diagn 31:347–350PubMedCrossRef
61.
Ekin A, Gezer C, Taner CE et al (2015) Fetal abdominal wall defects: six years experience at a tertiary center. Clin Exp Obstet Gynecol 42:327–330PubMed
62.
Willert C, Cohen H, Yu YT, Madden JD (1978) Association of prune belly syndrome and gastroschisis. Am J Dis Child 132:526–527PubMed
63.
Verhagen AD (1981) Gastroschisis and congenital contractures: coincidence or syndrome? J Pediatr Surg 16:605–607PubMedCrossRef
64.
Short KL, Groff DB, Cook L (1985) The concomitant presence of gastroschisis and prune belly syndrome in a twin. J Pediatr Surg 20:186–187PubMedCrossRef
65.
Nicolaides KH, Rodeck CH, Gosden CM (1986) Rapid karyotyping in non-lethal fetal malformations. Lancet 1:283–287PubMedCrossRef
66.
Lewinsky RM, Johnson JM, Lao TT, Winsor EJ, Cohen H (1990) Fetal gastroschisis associated with monosomy 22 mosaicism and absent cerebral diastolic flow. Prenat Diagn 10:605–608PubMedCrossRef
67.
Robertson WL, Glinski LP, Kirkpatrick SJ, Pauli RM (1992) Further evidence that arthrogryposis multiplex congenita in the human sometimes is caused by an intrauterine vascular accident. Teratology 45:345–351PubMedCrossRef
68.
Spencer R (1996) Minimally united ischiopagus twins: infraumbilical union with cloacal anomalies. J Pediatr Surg 31:1538–1545PubMedCrossRef
69.
Ramsey PS, Van Winter JT, Gaffey TA, Ramin KD (1998) Eclampsia complicating hydatidiform molar pregnancy with a coexisting, viable fetus. A case report. J Reprod Med 43:456–458PubMed
70.
Koivusalo A, Taskinen S, Rintala RJ (1998) Cryptorchidism in boys with congenital abdominal wall defects. Pediatr Surg Int 13:143–145PubMedCrossRef
71.
Kiliç N, Kiristioglu I, Balkan E, Dogruyol H (2001) Oromandibular limb hypogenesis and gastroschisis. J Pediatr Surg 36:E15PubMedCrossRef
72.
Orpen NM, Mathievathaniy M, Hitchcock R (2004) Left-sided gastroschisis and pseudoexstrophy: a rare combination of anomalies. Pediatr Surg Int 20:551–552PubMedCrossRef
73.
Guler I, Erdem A, Biri A et al (2007) Gastroschisis with fetal chromosomal abnormality: a case report. Fetal Diagn Ther 22:274–276PubMedCrossRef
74.
Khalil BA, Murphy H, Jones MO, Ellis I, Lamont GL (2007) Gastroschisis associated with cleft lip and palate. J Pediatr Surg 42:E9–E10PubMedCrossRef
75.
Brockmann K, Backes H, Auber B, Kriebel T, Stellmer F, Zoll B (2009) Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia. Am J Med Genet A 149A:2832–2837PubMedCrossRef
76.
Shi Y, Farinelli CK, Chang MS, Carpenter PM (2012) Left-sided gastroschisis with placenta findings: case report and literature review. Int J Clin Exp Pathol 5:243–246PubMedPubMedCentral
77.
Inoue S, Odaka A, Muta Y, Beck Y, Sobajima H, Tamura M (2016) Coexistence of congenital diaphragmatic hernia and abdominal wall closure defect with chromosomal abnormality: two case reports. J Med Case Rep 10:19PubMedPubMedCentralCrossRef
78.
Cassidy SB, Allanson JB (2010) Management of genetic syndromes. Wiley-Blackwell, HobokenCrossRef
79.
80.
Kubo A, Shiohama A, Sasaki T et al (2013) Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. Am J Hum Genet 93:945–956PubMedPubMedCentralCrossRef
81.
Winklmeier A, Contreras-Shannon V, Arndt S, Melle C, Bosserhoff AK (2009) Cadherin-7 interacts with melanoma inhibitory activity protein and negatively modulates melanoma cell migration. Cancer Sci 100:261–268PubMedCrossRef
82.
Wülfing P, Kersting C, Tio J et al (2004) Endothelin-1-, endothelin-A-, and endothelin-B-receptor expression is correlated with vascular endothelial growth factor expression and angiogenesis in breast cancer. Clin Cancer Res 10:2393–2400PubMedCrossRef
83.
Zaahl MG, du Plessis L, Warnich L, Kotze MJ, Moore SW (2003) Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung’s disease: predominance of a novel variant (561C/T) in patients with co-existing Down’s syndrome. Mol Cell Probes 17:49–54PubMedCrossRef
84.
Gao Y, Wu K, Chen Y et al (2015) Beyond proliferation: KLF5 promotes angiogenesis of bladder cancer through directly regulating VEGFA transcription. Oncotarget 6:43791–43805PubMedPubMedCentral
85.
Kuo DS, Labelle-Dumais C, Gould DB (2012) COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Hum Mol Genet 21:R97–R110PubMedPubMedCentralCrossRef
86.
Rogers MA, Langbein L, Winter H, Ehmann C, Praetzel S, Schweizer J (2002) Characterization of a first domain of human high glycine-tyrosine and high sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1. J Biol Chem 277:48993–49002PubMedCrossRef
87.
Rogers MA, Langbein L, Praetzel-Wunder S, Winter H, Schweizer J (2006) Human hair keratin-associated proteins (KAPs). Int Rev Cytol 251:209–263PubMedCrossRef
88.
Powell BC, Rogers GE (1997) The role of keratin proteins and their genes in the growth, structure and properties of hair. In: Jolles P, Zahn H, Höcker H (eds) Formation and Structure of Human Hair. Birkhäuser Verlag, Basel, pp 59–148CrossRef
89.
Tkatchenko AV, Visconti RP, Shang L et al (2001) Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia. Development 128:1547–1558PubMed
90.
Jensen PJ, Wu Q, Janowitz P, Ando Y, Schechter NM (1995) Plasminogen activator inhibitor type 2: an intracellular keratinocyte differentiation product that is incorporated into the cornified envelope. Exp Cell Res 217:65–71PubMedCrossRef
91.
Sivaprasad U, Kinker KG, Ericksen MB et al (2015) SERPINB3/B4 contributes to early inflammation and barrier dysfunction in an experimental murine model of atopic dermatitis. J Invest Dermatol 135:160–169PubMedCrossRef
92.
Katagiri C, Iida T, Nakanishi J, Ozawa M, Aiba S, Hibino T (2010) Up-regulation of serpin SCCA1 is associated with epidermal barrier disruption. J Dermatol Sci 57:95–101PubMedCrossRef
93.
Pemberton PA, Tipton AR, Pavloff N et al (1997) Maspin is an intracellular serpin that partitions into secretory vesicles and is present at the cell surface. J Histochem Cytochem 45:1697–1706PubMedCrossRef
94.
Endsley MP, Hu Y, Deng Y et al (2011) Maspin, the molecular bridge between the plasminogen activator system and beta1 integrin that facilitates cell adhesion. J Biol Chem 286:24599–24607PubMedPubMedCentralCrossRef
95.
Shellenberger TD, Mazumdar A, Henderson Y et al (2005) Headpin: a serpin with endogenous and exogenous suppression of angiogenesis. Cancer Res 65:11501–11509PubMedCrossRef
96.
Niehaus JZ, Good M, Jackson LE, Ozolek JA, Silverman GA, Luke CJ (2015) Human SERPINB12 is an abundant intracellular serpin expressed in most surface and glandular epithelia. J Histochem Cytochem 63:854–865PubMedPubMedCentralCrossRef
97.
Nakagawa S, Takeichi M (1998) Neural crest emigration from the neural tube depends on regulated cadherin expression. Development 125:2963–2971PubMed
98.
Tariq M, Chishti MS, Ali G, Ahmad W (2008) A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome18q22.1-22.3. Ann Hum Genet 72:19–25PubMed
99.
Zayed H, Chao R, Moshrefi A et al (2010) A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect. Am J Med Genet A 152A:916–923PubMedPubMedCentralCrossRef
100.
Lin AE, Pober BR, Mullen MP, Slavotinek AM (2005) Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells? Am J Med Genet A 139:186–193PubMedCrossRef
101.
Salinas-Torres VM, Rivera H (2014) Fryns syndrome with vertebral defects: a novel association in a Mexican infant. Genet Couns 25:29–33PubMed
102.
Ikeda T, Sun L, Tsuruoka N et al (2011) Hypoxia down-regulates sFlt-1 (sVEGFR-1) expression in human microvascular endothelial cells by a mechanism involving mRNA alternative processing. Biochem J 436:399–407PubMedPubMedCentralCrossRef
103.
Wilgus TA, Matthies AM, Radek KA et al (2005) Novel function for vascular endothelial growth factor receptor-1 on epidermal keratinocytes. Am J Pathol 167:1257–1266PubMedPubMedCentralCrossRef
104.
Zhang B, Zhang Z, Xia S et al (2013) KLF5 activates microRNA 200 transcription to maintain epithelial characteristics and preventinduced epithelial-mesenchymal transition in epithelial cells. Mol Cell Biol 33:4919–4935PubMedPubMedCentralCrossRef
105.
Stobdan T, Zhou D, Ao-Ieong E et al (2015) Endothelin receptor B, a candidate gene from human studies at high altitude, improves cardiactolerance to hypoxia in genetically engineered heterozygote mice. Proc Natl Acad Sci USA 112:10425–10430PubMedCrossRef
106.
Yang S, Toy K, Ingle G et al (2002) Vascular endothelial growth factor-induced genes in human umbilical vein endothelial cells: relative roles of KDR and Flt-1 receptors. Arterioscler Thromb Vasc Biol 22:1797–1803PubMedCrossRef
107.
Bogoni G, Rizzi A, Calo G, Campobasso C, D’Orleans-Juste P, Regoli D (1996) Characterization of endothelin receptors in the human umbilical artery and vein. Br J Pharmacol 119:1600–1604PubMedPubMedCentralCrossRef
108.
Colorado PC, Torre A, Kamphaus G et al (2000) Anti-angiogenic cues from vascular basement membrane collagen. Cancer Res 60:2520–2526PubMed
109.
Kamphaus GD, Colorado PC, Panka DJ et al (2000) Canstatin, a novel matrix-derived inhibitor of angiogenesis and tumor growth. J Biol Chem 275:1209–1215PubMedCrossRef
110.
Ndonwi M, Broze G Jr, Bajaj SP (2005) The first epidermal growth factor-like domains of factor Xa and factor Ixa are important for the activation of the factor VII–tissue factor complex. J Thromb Haemost 3:112–118PubMedCrossRef
111.
Leonard BJ, Chen Q, Blajchman MA et al (1998) Factor VII deficiency caused by a structural variant N57D of the first epidermal growth factordomain. Blood 91:142–148PubMed
112.
Ghosh S, Pendurthi UR, Steinoe A, Esmon CT, Rao LV (2007) Endothelial cell protein C receptor acts as a cellular receptor for factor VIIa on endothelium. J Biol Chem 282:11849–11857PubMedPubMedCentralCrossRef
113.
deVries PA (1980) The pathogenesis of gastroschisis and omphalocele. J Pediatr Surg 15:245–251PubMedCrossRef
114.
Lubinsky M (2014) A vascular and thrombotic model of gastroschisis. Am J Med Genet A 164A:915–917PubMedCrossRef
115.
Vermeij-Keers C, Hartwig NG, van der Werff JF (1996) Embryonic development of the ventral body wall and its congenital malformations. Semin Pediatr Surg 5:82–89PubMed
Metadaten
Titel
A clinical-pathogenetic approach on associated anomalies and chromosomal defects supports novel candidate critical regions and genes for gastroschisis
verfasst von
Victor M. Salinas-Torres
Rafael A. Salinas-Torres
Ricardo M. Cerda-Flores
Hugo L. Gallardo-Blanco
Laura E. Martínez-de-Villarreal
Publikationsdatum
09.08.2018
Verlag
Springer Berlin Heidelberg
Erschienen in
Pediatric Surgery International / Ausgabe 9/2018
Print ISSN: 0179-0358
Elektronische ISSN: 1437-9813
DOI
https://doi.org/10.1007/s00383-018-4331-4

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Fünf Dinge, die im Kindernotfall besser zu unterlassen sind
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