Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)

Autor: Siying Lin, Aida Sanchez-Bretaño, Joseph S. Leslie, Katie B. Williams, Helena Lee, N. Simon Thomas, Jonathan Callaway, James Deline, J. Arjuna Ratnayaka, Diana Baralle, Melanie A. Schmitt, Chelsea S. Norman, Sheri Hammond, Gaurav V. Harlalka, Sarah Ennis, Harold E. Cross, Olivia Wenger, Andrew H. Crosby, Emma L. Baple, Jay E. Self

Publikováno v: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-11 (2022)

Abstract Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase) gene which encodes the critical and rate-limiting enzyme in melanin synthesis. It is the most common OCA subtype found in Caucasians, accounting f

Externí odkaz: https://doaj.org/article/8ddc9109fec74dd780fb8658772b15c8

No association between SCN9A and monogenic human epilepsy disorders.

Autor: James Fasham, Joseph S Leslie, Jamie W Harrison, James Deline, Katie B Williams, Ashley Kuhl, Jessica Scott Schwoerer, Harold E Cross, Andrew H Crosby, Emma L Baple

Publikováno v: PLoS Genetics, Vol 16, Iss 11, p e1009161 (2020)

Many studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family counselling. Previously, SCN9A ge

Externí odkaz: https://doaj.org/article/cd0f662896e84708b6524b3f09164188

Phenotypic Variability in Atherosclerosis Burden in an Old-Order Amish Family With Homozygous Sitosterolemia

Autor: Claudia E. Korcarz, James H. Stein, Ann Dodge, James Deline, Amy L. Peterson

Publikováno v: JACC: Case Reports, Vol 2, Iss 4, Pp 646-650 (2020)
JACC Case Reports

Sitosterolemia is a rare atherogenic sterol storage disease with variability in its presentation requiring a high degree of clinical suspicion. We present 8 cases of sitosterolemia from an Amish kindred that, despite a background of decreased genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e33a8aaaaf5a8f39224e8eb8ab37d8c
http://www.sciencedirect.com/science/article/pii/S2666084920300474

No association between SCN9A and monogenic human epilepsy disorders

Autor: Jamie W. Harrison, Andrew H. Crosby, James Deline, Emma L. Baple, Harold E. Cross, James Fasham, Joseph S Leslie, Ashley Kuhl, Katie B Williams, Jessica Scott Schwoerer

Publikováno v: PLoS Genetics
PLoS Genetics, Vol 16, Iss 11, p e1009161 (2020)

Many studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family counselling. Previously, SCN9A ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca431ab3103a459f7987128205098710
https://pubmed.ncbi.nlm.nih.gov/33216760

Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community

Autor: Gregory M. Rice, James Deline, Sandra C. Van Calcar, Jessica Scott Schwoerer

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 4-7 (2016)
Scipedia Open Access
Scipedia SL
Molecular Genetics and Metabolism Reports

Propionic acidemia (PA) is an inborn error of protein metabolism with a variable clinical presentation ranging from neonatal encephalopathy to seemingly asymptomatic individuals who present with cardiomyopathy or sudden death. PA is recognized in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c986a3947357e746c4e1fc1d73d2bc64
https://doi.org/10.1016/j.ymgmr.2016.05.003