Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

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Fältnamn	Indikatorer	Metadata
000		06227naa a2201345 4500
001		oai:lup.lub.lu.se:9c8c845f-c972-4886-9b79-ff3bb1043fe3
003		SwePub
008		160401s2013 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://lup.lub.lu.se/record/39314832 URI
024	7	a https://doi.org/10.1002/humu.223132 DOI
040		a (SwePub)lu
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Sen, Partha4 aut
245	1 0	a Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
264		c 2013-04-12
264	1	b Hindawi Limited,c 2013
520		a 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. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA-binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653		a lung
653		a development
653		a angiogenesis
653		a ACD/MPV
653		a FOXF1
653		a imprinting
700	1	a Yang, Yaping4 aut
700	1	a Navarro, Colby4 aut
700	1	a Silva, Iris4 aut
700	1	a Szafranski, Przemyslaw4 aut
700	1	a Kolodziejska, Katarzyna E.4 aut
700	1	a Dharmadhikari, Avinash V.4 aut
700	1	a Mostafa, Hasnaa4 aut
700	1	a Kozakewich, Harry4 aut
700	1	a Kearney, Debra4 aut
700	1	a Cahill, John B.4 aut
700	1	a Whitt, Merrissa4 aut
700	1	a Bilic, Masha4 aut
700	1	a Margraf, Linda4 aut
700	1	a Charles, Adrian4 aut
700	1	a Goldblatt, Jack4 aut
700	1	a Gibson, Kathleen4 aut
700	1	a Lantz, Patrick E.4 aut
700	1	a Garvin, A. Julian4 aut
700	1	a Petty, John4 aut
700	1	a Kiblawi, Zeina4 aut
700	1	a Zuppan, Craig4 aut
700	1	a McConkie-Rosell, Allyn4 aut
700	1	a McDonald, Marie T.4 aut
700	1	a Peterson-Carmichael, Stacey L.4 aut
700	1	a Gaede, Jane T.4 aut
700	1	a Shivanna, Binoy4 aut
700	1	a Schady, Deborah4 aut
700	1	a Friedlich, Philippe S.4 aut
700	1	a Hays, Stephen R.4 aut
700	1	a Palafoll, Irene Valenzuela4 aut
700	1	a Siebers-Renelt, Ulrike4 aut
700	1	a Bohring, Axel4 aut
700	1	a Finn, Laura S.4 aut
700	1	a Siebert, Joseph R.4 aut
700	1	a Galambos, Csaba4 aut
700	1	a Nguyen, Lananh4 aut
700	1	a Riley, Melissa4 aut
700	1	a Chassaing, Nicolas4 aut
700	1	a Vigouroux, Adeline4 aut
700	1	a Rocha, Gustavo4 aut
700	1	a Fernandes, Susana4 aut
700	1	a Brumbaugh, Jane4 aut
700	1	a Roberts, Kari4 aut
700	1	a Luk, Ho-ming4 aut
700	1	a Lo, Ivan F. M.4 aut
700	1	a Lam, Stephen4 aut
700	1	a Gerychova, Romana4 aut
700	1	a Jezova, Marta4 aut
700	1	a Valaskova, Iveta4 aut
700	1	a Fellmann, Florence4 aut
700	1	a Afshar, Katayoun4 aut
700	1	a Giannoni, Eric4 aut
700	1	a Muhlethaler, Vincent4 aut
700	1	a Liang, Jinlong4 aut
700	1	a Beckmann, Jacques S.4 aut
700	1	a Lioy, Janet4 aut
700	1	a Deshmukh, Hitesh4 aut
700	1	a Srinivasan, Lakshmi4 aut
700	1	a Swarr, Daniel T.4 aut
700	1	a Sloman, Melissa4 aut
700	1	a Shaw-Smith, Charles4 aut
700	1	a van Loon, Rosa Laura4 aut
700	1	a Hagman, Ceciliau Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)med-cha
700	1	a Sznajer, Yves4 aut
700	1	a Barrea, Catherine4 aut
700	1	a Galant, Christine4 aut
700	1	a Detaille, Thierry4 aut
700	1	a Wambach, Jennifer A.4 aut
700	1	a Cole, F. Sessions4 aut
700	1	a Hamvas, Aaron4 aut
700	1	a Prince, Lawrence S.4 aut
700	1	a Diderich, Karin E. M.4 aut
700	1	a Brooks, Alice S.4 aut
700	1	a Verdijk, Robert M.4 aut
700	1	a Ravindranathan, Hari4 aut
700	1	a Sugo, Ella4 aut
700	1	a Mowat, David4 aut
700	1	a Baker, Michael L.4 aut
700	1	a Langston, Claire4 aut
700	1	a Welty, Stephen4 aut
700	1	a Stankiewicz, Pawel4 aut
710	2	a Pediatrik, Lundb Sektion V4 org
773	0	t Human Mutationd : Hindawi Limitedg 34:6, s. 801-811q 34:6<801-811x 1059-7794
856	4	u http://dx.doi.org/10.1002/humu.22313x freey FULLTEXT
856	4	u https://europepmc.org/articles/pmc3663886?pdf=render
856	4 8	u https://lup.lub.lu.se/record/3931483
856	4 8	u https://doi.org/10.1002/humu.22313

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Av författaren/redakt...: Sen, Partha; Yang, Yaping; Navarro, Colby; Silva, Iris; Szafranski, Prze ...; Kolodziejska, Ka ...; visa fler...; Dharmadhikari, A ...; Mostafa, Hasnaa; Kozakewich, Harr ...; Kearney, Debra; Cahill, John B.; Whitt, Merrissa; Bilic, Masha; Margraf, Linda; Charles, Adrian; Goldblatt, Jack; Gibson, Kathleen; Lantz, Patrick E ...; Garvin, A. Julia ...; Petty, John; Kiblawi, Zeina; Zuppan, Craig; McConkie-Rosell, ...; McDonald, Marie ...; Peterson-Carmich ...; Gaede, Jane T.; Shivanna, Binoy; Schady, Deborah; Friedlich, Phili ...; Hays, Stephen R.; Palafoll, Irene ...; Siebers-Renelt, ...; Bohring, Axel; Finn, Laura S.; Siebert, Joseph ...; Galambos, Csaba; Nguyen, Lananh; Riley, Melissa; Chassaing, Nicol ...; Vigouroux, Adeli ...; Rocha, Gustavo; Fernandes, Susan ...; Brumbaugh, Jane; Roberts, Kari; Luk, Ho-ming; Lo, Ivan F. M.; Lam, Stephen; Gerychova, Roman ...; Jezova, Marta; Valaskova, Iveta; Fellmann, Floren ...; Afshar, Katayoun; Giannoni, Eric; Muhlethaler, Vin ...; Liang, Jinlong; Beckmann, Jacque ...; Lioy, Janet; Deshmukh, Hitesh; Srinivasan, Laks ...; Swarr, Daniel T.; Sloman, Melissa; Shaw-Smith, Char ...; van Loon, Rosa L ...; Hagman, Cecilia; Sznajer, Yves; Barrea, Catherin ...; Galant, Christin ...; Detaille, Thierr ...; Wambach, Jennife ...; Cole, F. Session ...; Hamvas, Aaron; Prince, Lawrence ...; Diderich, Karin ...; Brooks, Alice S.; Verdijk, Robert ...; Ravindranathan, ...; Sugo, Ella; Mowat, David; Baker, Michael L ...; Langston, Claire; Welty, Stephen; Stankiewicz, Paw ...; visa färre...

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Av lärosätet: Lunds universitet

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