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Akademický článek

Isolated Crohn's disease of the appendix presenting as growth delay in an adolescent male

Autor: Rachel Aber, Gal Becker, Adi Anafy, Amir Ben-Tov, Ariel Greenberg, Igor Sukhotnik

Publikováno v: Journal of Pediatric Surgery Case Reports, Vol 78, Iss , Pp 102204- (2022)

The clinical diagnosis of classic Crohn's disease (CD) isolated to the appendix is based on a typical history, tender right lower quadrant fullness or mass and characteristic radiographic findings. Appendicitis may also present with chronic or recurr

Externí odkaz: https://doaj.org/article/121c75419f4b4032b1803b61f912a3cc

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Akademický článek

P129. LONG-TERM OUTCOME OF HAND AND SHOULDER FUNCTION IN CHILDREN FOLLOWING EARLY SURGICAL INTERVENTION FOR UPPER BRACHIAL PLEXUS BIRTH INJURY

Autor: Rachel Aber, BA, Leslie A. Grossman, MPH, Aaron J. Berger, MD, PhD, Israel Alfonso, MD, Andrew Price, MD, John AI Grossman, MD

Publikováno v: Plastic and Reconstructive Surgery, Global Open, Vol 10, Iss 4S, Pp 111-112 (2022)

Externí odkaz: https://doaj.org/article/99775f35504f4481ad8712208cc5a0eb

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Akademický článek

Jewish Adult Grandchildren and Their Grandparents

Autor: Rachel Aber Schlesinger, Benjamin Schlesinger

Publikováno v: Canadian Jewish Studies, Vol 12 (2004)

Externí odkaz: https://doaj.org/article/f119842f8f4e46549095a8a65f54c5f7

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Craniofacial Defects in Embryos with Homozygous Deletion of Eftud2 in Their Neural Crest Cells Are Not Rescued by Trp53 Deletion

Autor: Marie-Claude Beauchamp, Alexia Boucher, Yanchen Dong, Rachel Aber, Loydie A. Jerome-Majewska

Publikováno v: International Journal of Molecular Sciences; Volume 23; Issue 16; Pages: 9033

Embryos with homozygous mutation of Eftud2 in their neural crest cells (Eftud2ncc−/−) have brain and craniofacial malformations, hyperactivation of the P53-pathway and die before birth. Treatment of Eftud2ncc−/− embryos with pifithrin-α, a P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a73035c447c7823e7eba4361825f4498

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Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53

Autor: Jennifer L. Fish, Kym M. Boycott, Fjodor Merkuri, Peter C. Stirling, Rachel Aber, Matthew A. Lines, Eric Bareke, Marie-Claude Beauchamp, Anissa Djedid, Loydie A. Jerome-Majewska, Annie S. Tam, Jacek Majewski

Publikováno v: Hum Mol Genet

EFTUD2 is mutated in patients with mandibulofacial dysostosis with microcephaly (MFDM). We generated a mutant mouse line with conditional mutation in Eftud2 and used Wnt1-Cre2 to delete it in neural crest cells. Homozygous deletion of Eftud2 causes b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84fc86628f55fca1c543387b382980e0
https://doi.org/10.1093/hmg/ddab051

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Mis-splicing ofMdm2leads to Increased P53-Activity and Craniofacial Defects in a MFDMEftud2Mutant Mouse Model

Autor: Peter C. Stirling, Fjodor Merkuri, Kim M Boycott, Matthew A Lines, Jennifer L. Fish, Erik Bareke, Rachel Aber, Marie-Claude Beauchamp, Annie S. Tam, Anissa Djedid, Loydie A. Jerome-Majewska, Jacek Majewski

SummaryEFTUD2, a GTPase and core component of the splicesome, is mutated in patients with mandibulofacial dysostosis with microcephaly (MFDM). We generated a mutant mouse line with conditional mutation inEftud2and usedWnt1-Cre2to delete it in neural

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fa237e13d58caa8c54260068b71bcf1b
https://doi.org/10.1101/2020.09.22.308205

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Akademický článek

The SCEC/USGS Community Stress Drop Validation Study Using the 2019 Ridgecrest Earthquake Sequence

Autor: Annemarie Baltay, Rachel Abercrombie, Shanna Chu, Taka'aki Taira

Publikováno v: Seismica, Vol 3, Iss 1 (2024)

We introduce a community stress drop validation study using the 2019 Ridgecrest, California, earthquake sequence, in which researchers are invited to use a common dataset to independently estimate comparable measurements using a variety of methods. S

Externí odkaz: https://doaj.org/article/e2fd1ef0223d431f8d2542d542aa6ca0

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Transmembrane emp24 domain proteins in development and disease

Autor: Sevane Mugisha, Rachel Aber, Loydie A. Jerome-Majewska, Wesley Chan

Publikováno v: Genetics Research

Regulated transport through the secretory pathway is essential for embryonic development and homeostasis. Disruptions in this process impact cell fate, differentiation and survival, often resulting in abnormalities in morphogenesis and in disease. Se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ec0e433cd020d87567b60c1c34bd17d
https://pubmed.ncbi.nlm.nih.gov/31878985

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