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Quoted phrase not found in phrase index: "Alveolar capillary dysplasia with pulmonary venous misalignment"
Page 1
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BH, Wong WL, Chu YWY, Mok GTK, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P. Szafranski P, et al. Hum Genet. 2016 May;135(5):569-586. doi: 10.1007/s00439-016-1655-9. Epub 2016 Apr 12. Hum Genet. 2016. PMID: 27071622 Free PMC article.
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enha …
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung …
Capillary apposition and density in the diagnosis of alveolar capillary dysplasia.
Melly L, Sebire NJ, Malone M, Nicholson AG. Melly L, et al. Histopathology. 2008 Oct;53(4):450-7. doi: 10.1111/j.1365-2559.2008.03134.x. Histopathology. 2008. PMID: 18983610
AIM: Alveolar capillary dysplasia (ACD) is a rare disorder, typically presenting with persistent pulmonary hypertension of the newborn. ...CONCLUSION: Poor capillary apposition and density, allied with medial arterial hypertrophy and misalignment …
AIM: Alveolar capillary dysplasia (ACD) is a rare disorder, typically presenting with persistent pulmonary hyper …
Novel parent-of-origin-specific differentially methylated loci on chromosome 16.
Schulze KV, Szafranski P, Lesmana H, Hopkin RJ, Hamvas A, Wambach JA, Shinawi M, Zapata G, Carvalho CMB, Liu Q, Karolak JA, Lupski JR, Hanchard NA, Stankiewicz P. Schulze KV, et al. Clin Epigenetics. 2019 Apr 8;11(1):60. doi: 10.1186/s13148-019-0655-8. Clin Epigenetics. 2019. PMID: 30961659 Free PMC article.
BACKGROUND: Congenital malformations associated with maternal uniparental disomy of chromosome 16, upd(16)mat, resemble those observed in newborns with the lethal developmental lung disease, alveolar capillary dysplasia with misalignment …
BACKGROUND: Congenital malformations associated with maternal uniparental disomy of chromosome 16, upd(16)mat, resemble those observed …
Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency.
Karolak JA, Gambin T, Szafranski P, Maywald RL, Popek E, Heaney JD, Stankiewicz P. Karolak JA, et al. Respir Res. 2021 Jul 27;22(1):212. doi: 10.1186/s12931-021-01797-7. Respir Res. 2021. PMID: 34315444 Free PMC article.
BACKGROUND: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal congenital lung disorder in neonates characterized by severe progressive respiratory failure and refractory pulmonary hy …
BACKGROUND: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare l …
Living-donor single-lobe lung transplantation for pulmonary hypertension due to alveolar capillary dysplasia with misalignment of pulmonary veins.
Nakajima D, Oda H, Mineura K, Goto T, Kato I, Baba S, Ikeda T, Chen-Yoshikawa TF, Date H. Nakajima D, et al. Am J Transplant. 2020 Jun;20(6):1739-1743. doi: 10.1111/ajt.15762. Epub 2020 Jan 27. Am J Transplant. 2020. PMID: 31883304 Free article.
This is a case report of a successful single-lobe lung transplantation for pulmonary hypertension secondary to alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV). ...Lung perfusion scintigraph …
This is a case report of a successful single-lobe lung transplantation for pulmonary hypertension secondary to alveolar …
A familial case of alveolar capillary dysplasia with misalignment of the pulmonary veins: the clinicopathological features and unusual glomeruloid endothelial proliferation.
Kitano A, Nakaguro M, Tomotaki S, Hanaoka S, Kawai M, Saito A, Hayakawa M, Takahashi Y, Kawasaki H, Yamada T, Ikeda M, Onda T, Cho K, Haga H, Nakazawa A, Minamiguchi S. Kitano A, et al. Diagn Pathol. 2020 May 9;15(1):48. doi: 10.1186/s13000-020-00972-6. Diagn Pathol. 2020. PMID: 32386508 Free PMC article.
BACKGROUND: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare disorder of pulmonary vascular abnormality with persistent pulmonary hypertension of the newborn. ...An autopsy was performed …
BACKGROUND: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare …
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.
Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P. Sen P, et al. Hum Mutat. 2013 Jun;34(6):801-11. doi: 10.1002/humu.22313. Epub 2013 Apr 12. Hum Mutat. 2013. PMID: 23505205 Free PMC article.
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. ...We identified two addit …
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal d …
Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family.
Reiter J, Szafranski P, Breuer O, Perles Z, Dagan T, Stankiewicz P, Kerem E. Reiter J, et al. Pediatr Pulmonol. 2016 Sep;51(9):921-7. doi: 10.1002/ppul.23425. Epub 2016 May 4. Pediatr Pulmonol. 2016. PMID: 27145217
BACKGROUND: Heterozygous mutations in the FOXF1 transcription factor gene are implicated in alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a developmental disorder of the lungs classically presenting with p …
BACKGROUND: Heterozygous mutations in the FOXF1 transcription factor gene are implicated in alveolar capillary dysplasia …
CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region.
Szafranski P, Karolak JA, Lanza D, Gajęcka M, Heaney J, Stankiewicz P. Szafranski P, et al. Mamm Genome. 2017 Aug;28(7-8):275-282. doi: 10.1007/s00335-017-9686-7. Epub 2017 Apr 12. Mamm Genome. 2017. PMID: 28405742 Free PMC article.
Heterozygous point mutations in FOXF1 and genomic deletion copy-number variants at chromosomal region 16q24.1 involving FOXF1 or its regulatory region mapping ~300 kb upstream of FOXF1 and leaving it intact have been identified in the vast majority of patients with a lethal neona …
Heterozygous point mutations in FOXF1 and genomic deletion copy-number variants at chromosomal region 16q24.1 involving FOXF1 or its regulat …
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.
Szafranski P, Liu Q, Karolak JA, Song X, de Leeuw N, Faas B, Gerychova R, Janku P, Jezova M, Valaskova I, Gibbs KA, Surrey LF, Poisson V, Bérubé D, Oligny LL, Michaud JL, Popek E, Stankiewicz P. Szafranski P, et al. Hum Genet. 2019 Dec;138(11-12):1301-1311. doi: 10.1007/s00439-019-02073-x. Epub 2019 Nov 4. Hum Genet. 2019. PMID: 31686214 Free PMC article.
Haploinsufficiency of FOXF1 causes alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a lethal neonatal lung developmental disorder. ...In one case, the deletion of the maternal allele of the FOXF1 enhancer …
Haploinsufficiency of FOXF1 causes alveolar capillary dysplasia with misalignment of pulmonary veins …