Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Zaid Umar"'
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Akademický článek
SPECC1L-deficient primary mouse embryonic palatal mesenchyme cells show speed and directionality defects
Autor: Jeremy P. Goering, Dona G. Isai, Everett G. Hall, Nathan R. Wilson, Edina Kosa, Luke W. Wenger, Zaid Umar, Abdul Yousaf, Andras Czirok, Irfan Saadi
Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract Cleft lip and/or palate (CL/P) are common anomalies occurring in 1/800 live-births. Pathogenic SPECC1L variants have been identified in patients with CL/P, which signifies a primary role for SPECC1L in craniofacial development. Specc1l mutan
Externí odkaz: https://doaj.org/article/f2fdb4bc38df495ea530b8f2277c226b
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2
In-frame deletion of SPECC1L microtubule association domain results in gain-of-function phenotypes affecting embryonic tissue movement and fusion events
Autor: Madison K. Rickabaugh, Michael Moedritzer, Irfan Saadi, Zaid Umar, Brittany Jack, Everett G. Hall, Andras Czirok, Dona Greta Isai, Jeremy P. Goering, Luke W. Wenger, Marta Stetsiv
Publikováno v: Hum Mol Genet
Patients with autosomal dominant SPECC1L variants show syndromic malformations, including hypertelorism, cleft palate and omphalocele. These SPECC1L variants largely cluster in the second coiled-coil domain (CCD2), which facilitates association with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::082e1f28927be5f588d65202fd8e78f9
https://doi.org/10.1093/hmg/ddab211
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3
SPECC1L-deficient primary mouse embryonic palatal mesenchyme cells show speed and directionality defects
Autor: Edina Kosa, Abdul Yousaf, Irfan Saadi, Everett G. Hall, Jeremy P. Goering, Andras Czirok, Nathan R. Wilson, Luke W. Wenger, Dona Greta Isai, Zaid Umar
Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Scientific Reports
Cleft lip and/or palate (CL/P) are common anomalies occurring in 1/800 live-births. Pathogenic SPECC1L variants have been identified in patients with CL/P, which signifies a primary role for SPECC1L in craniofacial development. Specc1l mutant mouse e
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72a9a19788a64bb9ee1d62d47cc93b75
https://doaj.org/article/f2fdb4bc38df495ea530b8f2277c226b
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4
Novel insights into the fundamentals of palatal shelf elevation dynamics in normal mouse embryos
Autor: Jeremy P. Goering, Michael Moedritzer, Marta Stetsiv, Dona Greta Isai, Brittany M. Hufft-Martinez, Zaid Umar, Madison K. Rickabaugh, Paul Keselman, Munish Chauhan, William M. Brooks, Kenneth J. Fischer, Andras Czirok, Irfan Saadi
Publikováno v: The FASEB Journal. 36
Embryonic palate development involves bilateral vertical growth of palatal shelves – extensions from the maxillary processes – next to the tongue until embryonic day (E) 13.5. Following vertical growth, palatal shelves elevate and adhere above th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b51fc31e0c0d1620d79d0c0ca6734225
https://doi.org/10.1096/fasebj.2022.36.s1.r5519
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5
In-frame deletion of SPECC1L microtubule binding domain results in embryonic tissue movement and fusion defects
Autor: Everett G. Hall, Michael Moedritzer, Zaid Umar, Marta Stetsiv, Madison K. Rickabaugh, Jeremy P. Goering, Luke W. Wenger, Brittany Jack, Dona Greta Isai, Irfan Saadi, Andras Czirok
Embryonic morphogenesis of the neural tube, palate, ventral body wall and optic fissure require precise sequence of tissue movement and fusion, which if incomplete, leads to anencephaly/exencephaly, cleft palate, omphalocele and coloboma, respectivel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7d98f75407391ab062103e2e4d366716
https://doi.org/10.1101/2021.01.28.428634
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6
SPECC1L-deficient palate mesenchyme cells show speed and directionality defect
Autor: Dona Greta Isai, Luke W. Wenger, Jeremy P. Goering, Everett G. Hall, Nathan R. Wilson, Irfan Saadi, Andras Czirok, Abdul Yousaf, Edina Kosa, Zaid Umar
Clefts of the lip and/or palate (CL/P) are common anomalies that occur in 1/800 live births. Pathogenic SPECC1L variants identified in patients with rare atypical clefts and syndromic CL/P suggest the gene plays a primary role in face and palate deve
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19bc194704dd59ed0ddb6588edaaef01
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