Zobrazeno 1 - 10
of 410
pro vyhledávání: '"David R. Adams"'
Autor:
Marya S. Sabir, Petcharat Leoyklang, Mary E. Hackbarth, Evgenia Pak, Amalia Dutra, Richard Tait, Laura Pollard, David R. Adams, William A. Gahl, Marjan Huizing, May Christine V. Malicdan
Publikováno v:
Stem Cell Research, Vol 81, Iss , Pp 103600- (2024)
Free sialic acid storage disorder (FSASD) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic mutations in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, SLC17A5. Defects in SLC17A5 lead to lysosomal ac
Externí odkaz:
https://doaj.org/article/4516a097c315411c89234a855ac39d44
Autor:
Jinfeng Lu, Camilo Toro, David R. Adams, Undiagnosed Diseases Network, Cristiane Araujo Martins Moreno, Wan-Ping Lee, Yuk Yee Leung, Mathew B. Harms, Badri Vardarajan, Erin L. Heinzen
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-22 (2024)
Abstract Background Short tandem repeats (STRs) are widely distributed across the human genome and are associated with numerous neurological disorders. However, the extent that STRs contribute to disease is likely under-estimated because of the chall
Externí odkaz:
https://doaj.org/article/10f83745c1f7435fb5ac3dd6aa04ee9f
Autor:
Elizabeth E. Blue, Samuel J. Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd, Elisabeth A. Rosenthal, Madelyn A. Gillentine, Leah R. Fleming, David R. Adams, Lynne Wolfe, Aimee Allworth, Michael J. Bamshad, Nikeisha J. Caruana, Sirisak Chanprasert, Jingheng Chen, Nitsuh Dargie, Daniel Doherty, Marisa W. Friederich, Fuki M. Hisama, Martha Horike-Pyne, Jessica C. Lee, Tonia E. Donovan, Daniella H. Hock, Kathleen A. Leppig, Danny E. Miller, Ghayda Mirzaa, Jane Ranchalis, Wendy H. Raskind, Cole R. Michel, Richard Reisdorph, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, David A. Stroud, Virginia P. Sybert, Mark H. Wener, Andrew B. Stergachis, Christina T. Lam, Gail P. Jarvik, Katrina M. Dipple, Johan L.K. Van Hove, Ian A. Glass
Publikováno v:
Rare, Vol 2, Iss , Pp 100040- (2024)
Biallelic pathogenic variants in UQCRFS1 underlie a rare form of isolated mitochondrial complex III deficiency associated with lactic acidosis and a distinctive scalp alopecia previously described in two unrelated probands. Here, we describe a partic
Externí odkaz:
https://doaj.org/article/93c294e07b004efca6d7414223356227
Autor:
Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara, Jennifer Lange, Anna Lehman, Patricia M. Zerfas, Jennifer L. Murphy, Maria T. Acosta, Camille Wang, Emily Alderman, Undiagnosed Diseases Network, Sara Reichert, Audrey Thurm, David R. Adams, Wendy J. Introne, Sharon M. Gorski, Cornelius F. Boerkoel, William A. Gahl, Cynthia J. Tifft, May Christine V. Malicdan
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-16 (2023)
Abstract Autophagy regulates the degradation of damaged organelles and protein aggregates, and is critical for neuronal development, homeostasis, and maintenance, yet few neurodevelopmental disorders have been associated with pathogenic variants in g
Externí odkaz:
https://doaj.org/article/26c827d9dfcc46b4ace723c7df39bf58
Autor:
Volha V. Malechka, MD, Dat Duong, PhD, Keyla D. Bordonada, MD, Amy Turriff, MS, Delphine Blain, MS, MBA, Elizabeth Murphy, PhD, Wendy J. Introne, MD, Bernadette R. Gochuico, MD, David R. Adams, MD, PhD, Wadih M. Zein, MD, Brian P. Brooks, MD, PhD, Laryssa A. Huryn, MD, Benjamin D. Solomon, MD, Robert B. Hufnagel, MD, PhD
Publikováno v:
Ophthalmology Science, Vol 3, Iss 1, Pp 100225- (2023)
Purpose: To describe the relationships between foveal structure and visual function in a cohort of individuals with foveal hypoplasia (FH) and to estimate FH grade and visual acuity using a deep learning classifier. Design: Retrospective cohort study
Externí odkaz:
https://doaj.org/article/274a7e4a1c8149b4b26877b3c0630414
Autor:
Andressa Mota, Hannah K. Waxman, Rui Hong, Gavin D. Lagani, Sheng-Yong Niu, Féodora L. Bertherat, Lynne Wolfe, Christine May Malicdan, Thomas C. Markello, David R. Adams, William A. Gahl, Christine S. Cheng, Uwe Beffert, Angela Ho
Publikováno v:
PLoS Genetics, Vol 17, Iss 11 (2021)
The forkhead box (Fox) family of transcription factors are highly conserved and play essential roles in a wide range of cellular and developmental processes. We report an individual with severe neurological symptoms including postnatal microcephaly,
Externí odkaz:
https://doaj.org/article/c1ff14fa39f34f54ada5c832ebbe40c8
Autor:
Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with
Externí odkaz:
https://doaj.org/article/2275c46d50974e9991a6c7d018a72d18
Autor:
David R. Adams, Andrew R. Rahn
Publikováno v:
Oral and Maxillofacial Surgery, Medicine, and Pathology for the Clinician. :281-294
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::492cb8b4003709445e42d58f424986b5
https://doi.org/10.1002/9781119362579.ch23
https://doi.org/10.1002/9781119362579.ch23
Publikováno v:
Oral and Maxillofacial Surgery, Medicine, and Pathology for the Clinician. :201-217
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a38ce111244f9b3f06f19ec4f7020ed
https://doi.org/10.1002/9781119362579.ch17
https://doi.org/10.1002/9781119362579.ch17
Autor:
Laura E. Meissner, Ellen F. Macnamara, Precilla D'Souza, John Yang, Gilbert Vezina, Undiagnosed Diseases Network, Carlos R. Ferreira, Wadih M. Zein, Cynthia J. Tifft, David R. Adams
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 12, Pp n/a-n/a (2020)
Abstract Background DYRK1A‐Related Intellectual Disability Syndrome is a rare autosomal dominant condition characterized by intellectual disability, speech and language delays, microcephaly, facial dysmorphism, and feeding difficulties. Affected in
Externí odkaz:
https://doaj.org/article/06654f43af104ad8bb6508fad2dfb28f