Search Results - "Berry, Fred B."
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Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling
Published in Scientific reports (31-08-2024)“…Alterations to cilia are responsible for a wide range of severe disease; however, understanding of the transcriptional control of ciliogenesis remains…”
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Initiation of early osteoblast differentiation events through the direct transcriptional regulation of Msx2 by FOXC1
Published in PloS one (07-11-2012)“…Hierarchal transcriptional regulatory networks function to control the correct spatiotemporal patterning of the mammalian skeletal system. One such factor, the…”
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3
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies
Published in Human molecular genetics (01-04-2013)“…Retinal dystrophies are predominantly caused by mutations affecting the visual phototransduction system and cilia, with few genes identified that function to…”
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4
FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXO1A
Published in Human molecular genetics (14-02-2008)“…Mutations in the human FOXC1 transcription factor gene underlie Axenfeld–Rieger (AR) syndrome, a disorder characterized by anterior segment malformations in…”
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5
Regulation of FOXC1 Stability and Transcriptional Activity by an Epidermal Growth Factor-activated Mitogen-activated Protein Kinase Signaling Cascade
Published in The Journal of biological chemistry (14-04-2006)“…Mutations in the FOXC1 transcription factor gene result in Axenfeld Rieger malformations, a disorder that affects the anterior segment of the eye, the teeth,…”
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Loss of Foxc1 and Foxc2 function in chondroprogenitor cells disrupts endochondral ossification
Published in The Journal of biological chemistry (01-09-2021)“…Endochondral ossification initiates the growth of the majority of the mammalian skeleton and is tightly controlled through gene regulatory networks. The…”
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7
FOXC1 and FOXC2 regulate growth plate chondrocyte maturation towards hypertrophy in the embryonic mouse limb skeleton
Published in Development (Cambridge) (15-08-2024)“…The Forkhead box transcription factors FOXC1 and FOXC2 are expressed in condensing mesenchyme cells at the onset of endochondral ossification. We used the…”
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FOXC1 Regulates FGFR1 Isoform Switching to Promote Invasion Following TGFβ-Induced EMT
Published in Molecular cancer research (01-10-2017)“…Epithelial-to-mesenchymal transition (EMT) is an important physiologic process that drives tissue formation during development, but also contributes to disease…”
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FOXC1 Transcriptional Regulatory Activity Is Impaired by PBX1 in a Filamin A-Mediated Manner
Published in Molecular and Cellular Biology (01-02-2005)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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10
FOXC1 negatively regulates BMP‐SMAD activity and Id1 expression during osteoblast differentiation
Published in Journal of cellular biochemistry (01-06-2020)“…Bone morphogenetic proteins regulate a diverse range of biological processes through their activation of SMAD1, SMAD5, or SMAD8 proteins that, in turn,…”
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11
FGF19 is a target for FOXC1 regulation in ciliary body-derived cells
Published in Human molecular genetics (01-11-2006)“…The forkhead C1 (FOXC1) transcription factor is involved in the development and regulation of several organs, including the eye, where FOXC1 alterations cause…”
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FOXC1 Transcriptional Regulation Is Mediated by N- and C-terminal Activation Domains and Contains a Phosphorylated Transcriptional Inhibitory Domain
Published in The Journal of biological chemistry (22-03-2002)“…Mutations in the FOXC1 gene result in Axenfeld-Rieger malformations of the anterior segment of the eye and lead to an increased susceptibility of glaucoma. To…”
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13
Molecular analysis of NPAS3 functional domains and variants
Published in BMC molecular biology (03-12-2018)“…NPAS3 encodes a transcription factor which has been associated with multiple human psychiatric and neurodevelopmental disorders. In mice, deletion of Npas3 was…”
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14
Muscle dysfunction caused by loss of Magel2 in a mouse model of Prader-Willi and Schaaf-Yang syndromes
Published in Human molecular genetics (01-09-2016)“…Prader-Willi syndrome is characterized by severe hypotonia in infancy, with decreased lean mass and increased fat mass in childhood followed by severe…”
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A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents
Published in Cancer research (Chicago, Ill.) (01-09-2020)“…Exposure to high doses of alkylating agents is associated with increased risk of impaired spermatogenesis among nonirradiated male survivors of childhood…”
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Severe Molecular Defects of a Novel FOXC1 W152G Mutation Result in Aniridia
Published in Investigative ophthalmology & visual science (01-08-2009)“…FOXC1 mutations result in Axenfeld-Rieger syndrome, a disorder characterized by a broad spectrum of malformations of the anterior segment of the eye and an…”
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Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld–Rieger syndrome and anterior segment dysgenesis
Published in Human molecular genetics (15-03-2006)“…Axenfeld–Rieger ocular dysgenesis is associated with mutations of the human PITX2 and FOXC1 genes, which encode transcription factors of the homeodomain and…”
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PITX2 is involved in stress response in cultured human trabecular meshwork cells through regulation of SLC13A3
Published in Investigative ophthalmology & visual science (29-09-2011)“…Mutations of the PITX2 gene cause Axenfeld-Rieger syndrome (ARS) and glaucoma. In this study, the authors investigated genes directly regulated by the PITX2…”
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Human p32 Is a Novel FOXC1-Interacting Protein That Regulates FOXC1 Transcriptional Activity in Ocular Cells
Published in Investigative ophthalmology & visual science (01-12-2008)“…Mutations in the human forkhead box C1 gene (FOXC1) cause Axenfeld-Rieger (AR) malformations, often leading to glaucoma. Understanding the function of FOXC1…”
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20
Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1
Published in Human molecular genetics (15-11-2003)“…Five missense mutations (P79L, P79T, I91S, I91T and R127H) within the forkhead DNA-binding domain of the FOXC1 transcription factor, identified in patients…”
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