Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain. Issue 6 (12th April 2013)

• Record Type: Journal Article
• Authors: Sen, Partha; Yang, Yaping; Navarro, Colby; Silva, Iris; Szafranski, Przemyslaw; Kolodziejska, Katarzyna E.; Dharmadhikari, Avinash V.; Mostafa, Hasnaa; Kozakewich, Harry; Kearney, Debra; Cahill, John B.; Whitt, Merrissa; Bilic, Masha; Margraf, Linda; Charles, Adrian; Goldblatt, Jack; Gibson, Kathleen; Lantz, Patrick E.; Garvin, A. Julian; Petty, John; Kiblawi, Zeina; Zuppan, Craig; McConkie‐Rosell, Allyn; McDonald, Marie T.; Peterson‐Carmichael, Stacey L.; Gaede, Jane T.; Shivanna, Binoy; Schady, Deborah; Friedlich, Philippe S.; Hays, Stephen R.; Palafoll, Irene Valenzuela; Siebers‐Renelt, Ulrike; Bohring, Axel; Finn, Laura S.; Siebert, Joseph R.; Galambos, Csaba; Nguyen, Lananh; Riley, Melissa; Chassaing, Nicolas; Vigouroux, Adeline; Rocha, Gustavo; Fernandes, Susana; Brumbaugh, Jane; Roberts, Kari; Ho‐ming, Luk; Lo, Ivan F. M.; Lam, Stephen; Gerychova, Romana; Jezova, Marta; Valaskova, Iveta; Fellmann, Florence; Afshar, Katayoun; Giannoni, Eric; Muhlethaler, Vincent; Liang, Jinlong; Beckmann, Jacques S.; Lioy, Janet; Deshmukh, Hitesh; Srinivasan, Lakshmi; Swarr, Daniel T.; Sloman, Melissa; Shaw‐Smith, Charles; van, Rosa Laura; Hagman, Cecilia; Sznajer, Yves; Barrea, Catherine; Galant, Christine; Detaille, Thierry; Wambach, Jennifer A.; Cole, F. Sessions; Hamvas, Aaron; Prince, Lawrence S.; Diderich, Karin E.M.; Brooks, Alice S.; Verdijk, Robert M.; Ravindranathan, Hari; Sugo, Ella; Mowat, David; Baker, Michael L.; Langston, Claire; Welty, Stephen; Stankiewicz, Pawel;
• Is Part Of: Human mutation. Volume 34:Issue 6(2013:Jun.)
• Page Start: 801
• Page End: 811
• Publication Date: 2013-04-12
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22313
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22313-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <italic>FOXF1</italic> mutations result in Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins, a deadly neonatal lung disorder that is uniformly fatal. The data in the article is the outcome of a global collaboration presenting the up to date list of causative mutations in <italic>FOXF1</italic>. The maternally inherited familial cases support the paternal imprinting of the gene in human lungs. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg20pg5952" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>