Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Adam C. Gunning"'
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-10 (2024)
Abstract Background Genetic variants that severely alter protein products (e.g. nonsense, frameshift) are often associated with disease. For some genes, these predicted loss-of-function variants (pLoFs) are observed throughout the gene, whilst in oth
Externí odkaz:
https://doaj.org/article/38a6936aa39247d38bb363a5ab54185d
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-16 (2022)
Abstract Background The widespread clinical application of genome-wide sequencing has resulted in many new diagnoses for rare genetic conditions, but testing regularly identifies variants of uncertain significance (VUS). The remarkable rise in the am
Externí odkaz:
https://doaj.org/article/8a18d4fa39a84867a269df47a7e78eaa
Autor:
Zheng Yie Yap, Yo Han Park, Saskia B. Wortmann, Adam C. Gunning, Shlomit Ezer, Sukyeong Lee, Lita Duraine, Ekkehard Wilichowski, Kate Wilson, Johannes A. Mayr, Matias Wagner, Hong Li, Usha Kini, Emily Davis Black, Kristin G. Monaghan, James R. Lupski, Sian Ellard, Dominik S. Westphal, Tamar Harel, Wan Hee Yoon
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-21 (2021)
Abstract Background ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane-anchored protein involved in diverse processes including mitochondrial dynamics, mitochondrial DNA organization, and cholesterol m
Externí odkaz:
https://doaj.org/article/0d5b7ae4a6ea4c1ebee8d4fe1f9fe5f7
Autor:
Nishanka Ubeyratna, Joseph S Leslie, Reham Khalaf-Nazzal, Andrew H. Crosby, Ramez Zeid, Nouar Qutob, Adam C. Gunning, Fida' Al-Hijawi, Wisam Baker, Lucy McGavin, Peter D. Turnpenny, James Fasham, Siying Lin, Emma L. Baple
Publikováno v:
European Journal of Human Genetics
Isolated mitochondrial complex II deficiency is a rare cause of mitochondrial respiratory chain disease. To date biallelic variants in three genes encoding mitochondrial complex II molecular components have been unequivocally associated with mitochon
Autor:
Adam C. Gunning, Shlomit Ezer, Johannes A. Mayr, Ekkehard Wilichowski, Hong Li, Kristin G. Monaghan, Dominik S. Westphal, Emily Black, Yo Han Park, Kate Wilson, Sukyeong Lee, James R. Lupski, Matias Wagner, Saskia B. Wortmann, Usha Kini, Zheng Yie Yap, Tamar Harel, Lita Duraine, Wan Hee Yoon, Sian Ellard
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-21 (2021)
Genome Med. 13:55 (2021)
Genome Medicine
Genome Med. 13:55 (2021)
Genome Medicine
BackgroundATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane-anchored protein involved in diverse processes including mitochondrial dynamics, mitochondrial DNA organization, and cholesterol metabolism.
Autor:
Christopher M. Grochowski, Adam C. Gunning, Emma L. Baple, Romina Durigon, Tamar Harel, Carolyn Tysoe, James R. Lupski, Wan Hee Yoon, Ian Holt, Catherine Armstrong, Nayana Lahiri, Andrew Parrish, Vinod K. Misra, Ingrid Scurr, Robert W. Taylor, Caroline F. Wright, Uxoa Fernandez Pelayo, Karina Durlacher-Betzer, Klaudia Strucinska, Antonella Spinazzola, Julia Baptista, Tessa Homfray, Sian Ellard, Richard Caswell, Mikel Muñoz Oreja, John Dean, Mitchell H. Cunningham, Karen Stals, Aleck W.E. Jones
Publikováno v:
American Journal of Human Genetics
Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination. We report five
Publikováno v:
Genome medicine. 14(1)
Background The widespread clinical application of genome-wide sequencing has resulted in many new diagnoses for rare genetic conditions, but testing regularly identifies variants of uncertain significance (VUS). The remarkable rise in the amount of g
Autor:
Jennifer E. Posey, James R. Lupski, Joseph S Leslie, Harold E. Cross, Claire G. Salter, James Fasham, Nikol Voutsina, Olivia J. Rickman, Zeynep Coban Akdemir, Adam C. Gunning, Shalini N. Jhangiani, Andrew H. Crosby, Emma L. Baple, Lucy McGavin
Publikováno v:
Parkinsonism & Related Disorders. 82:84-86
Mitochondria membrane protein-associated neurodegeneration (MPAN) neurodegenerative disorder is typically associated with biallelic C19orf12 variants. Here we describe a new and review candidate previous monoallelic de novo C19orf12 variants to defin
Autor:
Mikel Muñoz Oreja, Antonella Spinazzolla, Romina Durigon, Adam C. Gunning, Uxoa Fernandez Pelayo, Ian J Holt, Sian Ellard
Publikováno v:
IV. Ikergazte. Nazioarteko ikerketa euskaraz. Kongresuko artikulu bilduma. Zientziak eta Natura Zientzia.
Publikováno v:
Journal of the Endocrine Society. 3:2258-2275
Despite the rapid expansion in recent years of databases reporting either benign or pathogenic genetic variation, the interpretation of novel missense variants can remain challenging, particularly for clinical or genetic testing laboratories where fu