Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations
Tài liệu tham khảo
Langston, 1991, Misalignment of pulmonary veins and alveolar capillary dysplasia, Pediatr. Pathol., 11, 163, 10.3109/15513819109064753
Wagenvoort, 1986, Misalignment of lung vessels: a syndrome causing persistent neonatal pulmonary hypertension, Hum. Pathol., 17, 727, 10.1016/S0046-8177(86)80182-4
Al-Hathlol, 2000, Alveolar capillary dysplasia. Report of a case of prolonged life without extracorporeal membrane oxygenation (ECMO) and review of the literature, Early Hum. Dev., 57, 86
Eulmesekian, 2005, Alveolar capillary dysplasia: a six-year single center experience, J. Perinat. Med., 33, 347, 10.1515/JPM.2005.067
Vassal, 1998, Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia), J. Med. Genet., 35, 58, 10.1136/jmg.35.1.58
Licht, 2004, Prolonged survival in alveolar capillary dysplasia syndrome, Eur. J. Pediatr., 163, 181, 10.1007/s00431-003-1385-6
Ahmed, 2008, Profound hypoxemia and pulmonary hypertension in a 7 month old: Late presentation of alveolar capillary dysplasia, Pediatr. Crit. Care Med., 9, e43, 10.1097/PCC.0b013e31818e383e
Steinhorn, 1997, Inhaled nitric oxide enhances oxygenation but not survival in infants with alveolar capillary dysplasia, J. Pediatr., 130, 417, 10.1016/S0022-3476(97)70203-8
Michalsky, 2005, Alveolar capillary dysplasia: a logical approach to a fatal disease, J. Pediatr. Surg., 40, 1100, 10.1016/j.jpedsurg.2005.03.067
Sen, 2004, Expanding the phenotype of alveolar capillary dysplasia (ACD), J. Pediatr., 145, 646, 10.1016/j.jpeds.2004.06.081
Rabah, 2001, Congenital alveolar capillary dysplasia with misalignment of pulmonary veins associated with hypoplastic left heart, Pediatr. Dev. Pathol., 4, 167, 10.1007/s100240010125
Simonton, 1993, Familial persistent pulmonary hypertension in two siblings with phocomelia and alveolar capillary dysplasia (ACD) - a new syndrome? {abstract, Mod. Pathol., 6, 9P
Boggs, 1994, Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression, J. Pediatr., 124, 125, 10.1016/S0022-3476(94)70267-5
Gutierrez, 2000, Congenital misalignment of pulmonary veins with alveolar capillary dysplasia causing persistent neonatal pulmonary hypertension: report of two affected siblings, Pediatr. Dev. Pathol., 3, 271, 10.1007/s100249910035
Pasutto, 2007, Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation, Am. J. Hum. Genet., 80, 550, 10.1086/512203
Lu, 2007, Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases, PLoS ONE, 2, e327, 10.1371/journal.pone.0000327
Ou, 2008, Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses, Genet. Med., 10, 278, 10.1097/GIM.0b013e31816b4420
Kalinichenko, 2001, Differential expression of forkhead box transcription factors following butylated hydroxytoluene lung injury, Am. J. Physiol. Lung Cell. Mol. Physiol., 280, L695, 10.1152/ajplung.2001.280.4.L695
Mahlapuu, 2001, Haploinsufficiency of the forkhead gene Foxf1, a target for sonic hedgehog signaling, causes lung and foregut malformations, Development, 128, 2397, 10.1242/dev.128.12.2397
Maeda, 2007, Transcriptional control of lung morphogenesis, Physiol. Rev., 87, 219, 10.1152/physrev.00028.2006
Brice, 2002, Analysis of the phenotypic abnormalities in lymphoedema-distichiasis in 74 patients with FOXC2 mutations or linkage to 16q24, J. Med. Genet., 39, 478, 10.1136/jmg.39.7.478
Bell, 2001, Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene, Hum. Genet., 108, 546, 10.1007/s004390100528
Iida, 1997, Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis, Development, 124, 4627, 10.1242/dev.124.22.4627
Kanzaki-Kato, 2005, Roles of forkhead transcription factor Foxc2 (MFH-1) and endothelin receptor A in cardiovascular morphogenesis, Cardiovasc. Res., 65, 711, 10.1016/j.cardiores.2004.10.017
Fukamachi, 2001, Mesenchymal transcription factor Fkh6 is essential for development and differentiation of parietal cells, Biophys. Biochem. Res. Commun., 280, 1069, 10.1006/bbrc.2001.4247
Fukuda, 2003, Mesenchymal expression of Foxl1, a winged helix transcriptional factor, regulates generation and maintenance of gut-associated lymphoid organs, Dev. Biol., 255, 278, 10.1016/S0012-1606(02)00088-X
Takano-Maruyama, 2006, Foxl1-deficient mice exhibit aberrant epithelial cell positioning resulting from dysregulated EphB/EphrinB expression in the small intestine, Am. J. Physiol. Gastrointest. Liver Physiol., 291, G163, 10.1152/ajpgi.00019.2006
Kalinichenko, 2001, Defects in pulmonary vasculature and perinatal lung hemorrhage in mice heterozygous for the Forkhead Box f1 transcription factor, Dev. Biol., 235, 489, 10.1006/dbio.2001.0322
Chang, 2001, Structural characterization of the mouse Foxf1a gene, Gene, 267, 201, 10.1016/S0378-1119(01)00400-0
Luedi, 2007, Computational and experimental identification of novel human imprinted genes, Genome Res., 17, 1723, 10.1101/gr.6584707
Kohlhase, 2000, First confirmed case with paternal uniparental disomy of chromosome 16, Am. J. Med. Genet., 91, 190, 10.1002/(SICI)1096-8628(20000320)91:3<190::AID-AJMG6>3.0.CO;2-I
Astorga, 2007, Hedgehog induction of murine vasculogenesis is mediated by Foxf1 and Bmp4, Development, 134, 3753, 10.1242/dev.004432
Tseng, 2004, Function and regulation of FoxF1 during Xenopus gut development, Development, 131, 3637, 10.1242/dev.01234
Hellqvist, 1996, Differential activation of lung-specific genes by two forkhead proteins, FREAC-1 and FREAC-2, J. Biol. Chem., 271, 4482, 10.1074/jbc.271.8.4482
Lim, 2002, Fusion of lung lobes and vessels in mouse embryos heterozygous for the forkhead box f1 targeted allele, Am. J. Physiol. Lung Cell. Mol. Physiol., 282, L1012, 10.1152/ajplung.00371.2001
Kalinichenko, 2004, Foxf1 haploinsufficiency reduces Notch-2 signaling during mouse lung development, Am. J. Physiol. Lung Cell. Mol. Physiol., 286, L521, 10.1152/ajplung.00212.2003
Gu, 2008, Mechanisms for human genomic rearrangements, Pathogenetics, 1, 4, 10.1186/1755-8417-1-4
Shaw-Smith, 2006, Oesophageal atresia, tracheo-oesophageal fistula and the VACTERL association: review of genetics and epidemiology, J. Med. Genet., 43, 545, 10.1136/jmg.2005.038158