SEN, Partha, Romana GERYCHOVÁ, Petr JANKŮ, Marta JEŽOVÁ, Iveta VALÁŠKOVÁ, Colby NAVARRO, Iris SILVA, Claire LANGSTON, Stephen WELTY, John BELMONT a Pawel STANKIEWICZ. A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. European Journal of Human Genetics. London: Nature Publishing Group, 2013, roč. 21, č. 4, s. 474-477. ISSN 1018-4813. Dostupné z: https://dx.doi.org/10.1038/ejhg.2012.171. |
Další formáty:
BibTeX
LaTeX
RIS
@article{1074382, author = {Sen, Partha and Gerychová, Romana and Janků, Petr and Ježová, Marta and Valášková, Iveta and Navarro, Colby and Silva, Iris and Langston, Claire and Welty, Stephen and Belmont, John and Stankiewicz, Pawel}, article_location = {London}, article_number = {4}, doi = {http://dx.doi.org/10.1038/ejhg.2012.171}, keywords = {ACD/MPV; FOXF1; imprinting; angiogenesis; lung development}, language = {eng}, issn = {1018-4813}, journal = {European Journal of Human Genetics}, note = {ISSN uvedeno dle WoS, dle NK ČR 1018-4813 chybné}, title = {A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human}, volume = {21}, year = {2013} }
TY - JOUR ID - 1074382 AU - Sen, Partha - Gerychová, Romana - Janků, Petr - Ježová, Marta - Valášková, Iveta - Navarro, Colby - Silva, Iris - Langston, Claire - Welty, Stephen - Belmont, John - Stankiewicz, Pawel PY - 2013 TI - A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human JF - European Journal of Human Genetics VL - 21 IS - 4 SP - 474-477 EP - 474-477 PB - Nature Publishing Group SN - 10184813 N1 - ISSN uvedeno dle WoS, dle NK ČR 1018-4813 chybné KW - ACD/MPV KW - FOXF1 KW - imprinting KW - angiogenesis KW - lung development N2 - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare developmental lung disorder that is uniformly lethal. Affected infants die within the first few weeks of their life despite aggressive treatment, although a few cases of late manifestation and longer survival have been reported. We have shown previously that mutations and deletions in FOXF1 are a cause of this disorder. Although most of the cases of ACD/MPV are sporadic, there have been infrequent reports of familial cases. We present a family with five out of six children affected with ACD/MPV. DNA analysis identified a missense mutation (c.416G4T; p.Arg139Leu) in the FOXF1 gene that segregated in the three affected siblings tested. The same variant is also present as a de novo mutation in the mother and arose on her paternally derived chromosome 16. The two tested affected siblings share the same chromosome 16 haplotype inherited from their maternal grandfather. Their single healthy sibling has a different chromosome 16 haplotype inherited from the maternal grandmother. The results are consistent with paternal imprinting of FOXF1 in human. ER -
SEN, Partha, Romana GERYCHOVÁ, Petr JANKŮ, Marta JEŽOVÁ, Iveta VALÁŠKOVÁ, Colby NAVARRO, Iris SILVA, Claire LANGSTON, Stephen WELTY, John BELMONT a Pawel STANKIEWICZ. A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. \textit{European Journal of Human Genetics}. London: Nature Publishing Group, 2013, roč.~21, č.~4, s.~474-477. ISSN~1018-4813. Dostupné z: https://dx.doi.org/10.1038/ejhg.2012.171.
|