Výsledky vyhledávání - "William A. Paznekas"

Akademický článek

Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation.

Publikováno v: PLoS ONE, Vol 7, Iss 4, p e35826 (2012)

Receptor tyrosine kinase signaling cooperates with WNT/β-catenin signaling in regulating many biological processes, but the mechanisms of their interaction remain poorly defined. We describe a potent activation of WNT/β-catenin by FGFR2, FGFR3, EGF

Externí odkaz: https://doaj.org/article/c0182a0e9b1847789602f32735b60daf

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Tyrosine-dependent basolateral targeting of human connexin43-eYFP in Madin-Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V

Autor: Albert Lai, Jana Chtchetinin, Ethylin Wang Jabs, Sichen Li, Wes D. Gifford, William A. Paznekas

Publikováno v: FEBS Journal. 276:6992-7005

Polarized membrane sorting of connexin 43 (Cx43) has not been well-characterized. Based on the presence of a putative sorting signal, YKLV(286-289), within its C-terminal cytoplasmic domain, we hypothesized that Cx43 is selectively expressed on the b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9bda0424b547c202301005c98a313705
https://doi.org/10.1111/j.1742-4658.2009.07407.x

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GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

Autor: Ethylin Wang Jabs, Barbara A. Karczeski, Lionel Van Maldergem, Joann Bodurtha, Sascha Vermeer, Martin B. Delatycki, William A. Paznekas, R. Brian Lowry, Simeon A. Boyadjiev, Faivre Laurence, Pasi A. Koivisto

Publikováno v: Human Mutation, 30, 5, pp. 724-33
Human Mutation, 30, 724-33

Contains fulltext : 80660.pdf (Publisher’s version ) (Closed access) The predominantly autosomal dominant disorder, oculodentodigital dysplasia (ODDD) has high penetrance with intra- and interfamilial phenotypic variability. Abnormalities observed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba7a3f6dd1de5c31307ecd2b729ae72d
https://hdl.handle.net/2066/80660

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Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening

Autor: Ruth Sheffer, Ethylin Wang Jabs, John B. Mulliken, Ziva Ben-Neriah, Lionel Van Maldergem, George E. Hoganson, Michael L. Cunningham, Juanliang Cai, Donna Daentl, William A. Paznekas, Ankita Patel, Barbara K. Goodman

Publikováno v: Human Genetics. 114:68-76

The majority of patients with Saethre-Chotzen syndrome have mutations in the TWIST gene, which codes for a basic helix-loop-helix transcription factor. Of the genetic alterations identified in TWIST, nonsense mutations, frameshifts secondary to small

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26c7945d7f2f1c6ac9df9079708f05c5
https://doi.org/10.1007/s00439-003-1012-7

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Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms

Autor: William A. Paznekas, C E Burgess, Laura Kasch, A E Wandstrat, Robert E. Shapiro, A B Chowdry, Ethylin Wang Jabs, M Schalling, Simeon A. Boyadjiev, Bernd Wollnik, J W Choi, Michael Lovett, G Zhang

Publikováno v: Cytogenetic and Genome Research. 98:29-37

Oculodentodigital dysplasia (ODDD) is an autosomal dominant condition with congenital anomalies of the craniofacial and limb regions and neurodegeneration. Genetic anticipation for the dysmorphic and neurologic features has been inferred in a few fam

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6e5a25b898762c8e464ac7cd3dd0f68
https://doi.org/10.1159/000068535

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Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations

Autor: A.K. Tran, Alan F. Scott, Ethylin Wang Jabs, Roxann G. Ingersoll, William A. Paznekas, G. Jiang

Publikováno v: Cytogenetic and Genome Research. 94:121-126

Fibroblast growth factor receptors (FGFRs) play an important role in development and tumorigenesis. Mutations in FGFR2 cause more than five craniosynostosis syndromes. The FGFR2 genomic structure is the largest of the FGFR family. We have refined and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::904161e521858475ec0289d28e32be1b
https://doi.org/10.1159/000048802

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A requirement for membrane-associated phospholipase A2 in platelet cytotoxicity activated by receptors for immunoglobulin G and complement

Autor: David Eric Symer, William A. Paznekas, Hyun S. Shin

Publikováno v: The Journal of Experimental Medicine

Platelets are potent antibody- and complement-dependent cytotoxic effector cells. We showed previously that a single platelet can lyse a target cell sensitized with immunoglobulin G (IgG) and complement components up to C3 (C integral of 3b denotes t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::901a13b19dc9bd75e4ca0ca8e559a5c1
https://doi.org/10.1084/jem.177.4.937

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Tyrosine-dependent basolateral targeting of human connexin43-eYFP in Madin-Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V

Autor: Jana, Chtchetinin, Wes D, Gifford, Sichen, Li, William A, Paznekas, Ethylin Wang, Jabs, Albert, Lai

Publikováno v: The FEBS journal. 276(23)

Polarized membrane sorting of Connexin 43 (Cx43) has not been well-characterized. Based on the presence of a putative sorting signal, Y286KLV289, within its carboxy terminal cytoplasmic domain, we hypothesized that Cx43 is selectively expressed on th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::aa76369e24130c70c6548b0765a0c1e7
https://pubmed.ncbi.nlm.nih.gov/19860828

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Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells

Autor: Dung Nghi Le, Ethylin Wang Jabs, Andrew Charles, Wes D. Gifford, William A. Paznekas, Albert Lai

Publikováno v: Journal of cell science. 119(Pt 3)

Oculodentodigital dysplasia (ODDD) is a rare developmental disorder characterized by craniofacial and limb abnormalities. Over 35 separate mutations in human connexin43 (Cx43) causing ODDD have been identified. Several mutations are also associated w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1ce8f2b3a3b26deb37bf35356315fb2
https://pubmed.ncbi.nlm.nih.gov/16418219

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