Cargando…

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

BACKGROUND: Point mutations or genomic deletions of FOXF1 result in a lethal developmental lung disease Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. However, the clinical consequences of the constitutively increased dosage of FOXF1 are unknown. METHODS: Copy-number variations a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Dharmadhikari, Avinash V, Gambin, Tomasz, Szafranski, Przemyslaw, Cao, Wenjian, Probst, Frank J, Jin, Weihong, Fang, Ping, Gogolewski, Krzysztof, Gambin, Anna, George-Abraham, Jaya K, Golla, Sailaja, Boidein, Francoise, Duban-Bedu, Benedicte, Delobel, Bruno, Andrieux, Joris, Becker, Kerstin, Holinski-Feder, Elke, Cheung, Sau Wai, Stankiewicz, Pawel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411736/ https://www.ncbi.nlm.nih.gov/pubmed/25472632 http://dx.doi.org/10.1186/s12881-014-0128-z

Ejemplares similares

Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease
por: Dharmadhikari, Avinash V., et al.
Publicado: (2015)

Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression
por: Dharmadhikari, Avinash V., et al.
Publicado: (2016)

Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq
por: Karolak, Justyna A., et al.
Publicado: (2021)

Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency
por: Karolak, Justyna A., et al.
Publicado: (2021)

Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV
por: Szafranski, Przemyslaw, et al.
Publicado: (2016)

Ultra-conserved non-coding sequences within the FOXF1 enhancer are critical for human lung development
por: Szafranski, Przemyslaw, et al.
Publicado: (2022)

High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV
por: Yıldız Bölükbaşı, Esra, et al.
Publicado: (2022)

Revised time estimation of the ancestral human chromosome 2 fusion
por: Poszewiecka, Barbara, et al.
Publicado: (2022)

Comparative Analyses of Lung Transcriptomes in Patients with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and in Foxf1 Heterozygous Knockout Mice
por: Sen, Partha, et al.
Publicado: (2014)

PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution
por: Poszewiecka, Barbara, et al.
Publicado: (2023)

A Small De Novo CNV Deletion of the Paternal Copy of FOXF1, Leaving lncRNA FENDRR Intact, Provides Insight into Their Bidirectional Promoter Region
por: Szafranski, Przemyslaw, et al.
Publicado: (2023)

Genome-wide analyses of LINE–LINE-mediated nonallelic homologous recombination
por: Startek, Michał, et al.
Publicado: (2015)

Low Entropy Sub-Networks Prevent the Integration of Metabolomic and Transcriptomic Data
por: Gogolewski, Krzysztof, et al.
Publicado: (2020)

Further refinement of the differentially methylated distant lung-specific FOXF1 enhancer in a neonate with alveolar capillary dysplasia
por: Szafranski, Przemyslaw, et al.
Publicado: (2023)

Inferring Molecular Processes Heterogeneity from Transcriptional Data
por: Gogolewski, Krzysztof, et al.
Publicado: (2017)

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations
por: Stankiewicz, Paweł, et al.
Publicado: (2009)

Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes
por: Garabedian, Matthew J., et al.
Publicado: (2012)

Multiple samples aCGH analysis for rare CNVs detection
por: Sykulski, Maciej, et al.
Publicado: (2013)

Cloud-native distributed genomic pileup operations
por: Wiewiórka, Marek, et al.
Publicado: (2022)

TADeus2: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure
por: Poszewiecka, Barbara, et al.
Publicado: (2022)

Evolutionarily recent, insertional fission of mitochondrial cox2 into complementary genes in bilaterian Metazoa
por: Szafranski, Przemyslaw
Publicado: (2017)

Sexual selection does not influence minisatellite mutation rate
por: Amos, William
Publicado: (2009)

A Fast and Specific Alignment Method for Minisatellite Maps
por: Bérard, Sèverine, et al.
Publicado: (2007)

Mutation at the Human D1S80 Minisatellite Locus
por: Balamurugan, Kuppareddi, et al.
Publicado: (2012)

WAMI: a web server for the analysis of minisatellite maps
por: Abouelhoda, Mohamed, et al.
Publicado: (2010)

Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: Roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature
por: Shaw-Smith, Charles
Publicado: (2010)

Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis
por: Bzdęga, Katarzyna, et al.
Publicado: (2023)

Minisatellite instability is found in colorectal tumours with mismatch repair deficiency
por: Coleman, M G, et al.
Publicado: (2001)

SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia
por: Zemet, Roni, et al.
Publicado: (2023)

Computational and experimental analyses of retrotransposon-associated minisatellite DNAs in the soybean genome
por: Mogil, Lauren S, et al.
Publicado: (2012)

Multiple Pathways Regulate Minisatellite Stability During Stationary Phase in Yeast
por: Kelly, Maire K., et al.
Publicado: (2012)

Minisatellite mutation rates increase with extra-pair paternity among birds
por: Møller, Anders P, et al.
Publicado: (2009)

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination
por: Campbell, Ian M, et al.
Publicado: (2014)

Plasticity and textures
por: Gambin, Wiktor
Publicado: (2001)

A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report
por: Karolak, Justyna A., et al.
Publicado: (2020)

Diversity and structure of PIF/Harbinger-like elements in the genome of Medicago truncatula
por: Grzebelus, Dariusz, et al.
Publicado: (2007)

Data-driven case fatality rate estimation for the primary lineage of SARS-CoV-2 in Poland
por: Gogolewski, Krzysztof, et al.
Publicado: (2022)

New germline mutations in the hypervariable minisatellite CEB1 in the parents of children with leukaemia
por: Davies, B G, et al.
Publicado: (2007)

Rare Exonic Minisatellite Alleles in MUC2 Influence Susceptibility to Gastric Carcinoma
por: Jeong, Yun Hee, et al.
Publicado: (2007)

Expressional dynamics of minisatellite 33.15 tagged spermatozoal transcriptome in Bubalus bubalis
por: Srivastava, Jyoti, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_28d23jvrf4c8qg6pm3o558v0le