Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach

Autor: Robert D. Nicholls, Jerry Vockley, Leah M. Seibold, Lina Ghaloul-Gonzalez, Cate Walsh Vockley, Rachel Wolfe, Paige Heiman, Al-Walid Mohsen, Carol A. Bertrand

Publikováno v: American Journal of Medical Genetics. Part a

Guanylate cyclase 2C (GC‐C), encoded by the GUCY2C gene, is implicated in hereditary early onset chronic diarrhea. Several families with chronic diarrhea symptoms have been identified with autosomal dominant, gain‐of‐function mutations in GUCY2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6dae0fde99ba149638a2a282ebc0283
https://doi.org/10.1002/ajmg.a.62207

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Autor: Rani H. Singh, Marybeth Hummel, Susan Romie, Sheela Shrestha, Chin to Fong, Katie Coakley, Hilary J. Vernon, Dennis Bartholomew, Kelly E. Jackson, Kristin D'Aco, Dwight D. Koeberl, Paula Engelking, Mathew J. Edick, Melissa Samons, Nancy D. Leslie, David Dimmock, Joyanna Hansen, Sandy vanCalcar, Sonja Henry, Barbara Burton, Sarah G. Hainline, Rebecca Loman, Cecilia Rajakaruna, Esperanza Font-Montgomery, Alvaro H. Serrano Russi, Cynthia A. Cameron, Ada Hamosh, Jennie Wilkins, Georgianne L. Arnold, Nancy Ambrose, Cassie Bird, Alexander Asamoah, Yong-hui Jiang, Nancy Smith, David Kronn, Melanie Goff, Emily Phillips, Jerry Vockley, Lauren Dwyer, Sangeetha Lakshman, Adrya Stembridge, Gerald Feldman, Cate Walsh-Vockley, Paul Levy, Barbara K. Burton, Quinn Stein, Loren D.M. Pena, Priya S. Kishnani, Susan Berry, Laura Davis-Keppen, Melinda Dodge, William B. Rizzo, Machelle Dawson, George Hoganson, Kristi Bentler, Kaitlin Justice, Ayesha Ahmad, Richard Erbe, Sara A. Elsbecker, Theresa Hart, Jessica Scott Schwoerer, Susan A. Berry, Shaohui Zhai, William J. Rhead, Tara Chandra Narumanchi, Bryan Hainline, Dawn Peck, Kara Goodin, Sara Elsbecker, Sally J. Hiner, Janet Thomas, Ashley Swan, Racheal Powers, Sue Lipinski, Clare Edano, Georgianne Arnold

Publikováno v: Molecular Genetics and Metabolism. 119:75-82

Introduction There is limited understanding of relationships between genotype, phenotype and other conditions contributing to health in neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) identified through newborn screening.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32be21d3dd8798aa4118a7a4fd6b6818
https://doi.org/10.1016/j.ymgme.2016.07.002

Newborn Screening: Education, Consent, and the Residual Blood Spot. The Position of the National Society of Genetic Counselors

Autor: Brook Croke, Carrie L. Blout, Cate Walsh Vockley, Lori Williamson Dean, Amy Gaviglio, Michelle Fox

Publikováno v: Journal of Genetic Counseling. 23:16-19

Newborn screening (NBS) is a minimally invasive lifesaving test. There is currently no federal mandate for NBS, thus states determine their own screening panel based on the recommendations of the Secretary's Advisory Committee on Heritable Disorders

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e9351023e8dba8c45714c04970eb065
https://doi.org/10.1007/s10897-013-9631-1

Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance ofPTC1-like domains inNPC1

Autor: Pamela S. Karnes, Marc C. Patterson, John F. O'Brien, Cate Walsh Vockley, Patrick A. Lundquist, Karen Snow, Walter D. Park, Daniel L. Kraft

Publikováno v: Human Mutation. 22:313-325

The two known complementation groups of Niemann-Pick Type C disease, NPC1 and NPC2, result from non-allelic protein defects. Both the NPC1 and NPC2 (HE1) gene products are intimately involved in cholesterol and glycolipid trafficking and/or transport

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af0fc809784324eb381e4c9a0f46b7bb
https://doi.org/10.1002/humu.10255

The National Niemann-Pick C1 disease database: report of clinical features and health problems

Autor: Randy A. Heidenreich, Cate Walsh Vockley, F. John Meaney, Graciela Castro, William S. Garver, Kathleen M. Pettit, Glen Shepherd, Gordon A. Francis, Donald L. Coppock, James Flynn, David Jelinek

Publikováno v: American journal of medical genetics. Part A. (11)

Niemann-Pick type C1 (NPC1) disease is an autosomal recessive disorder characterized clinically by neonatal jaundice, hepatosplenomegaly, vertical gaze palsy, ataxia, dystonia, and progressive neurodegeneration. The present study provides basic clini

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01852a1e7f7d68dbc7b5ffbfa1c231d5
https://pubmed.ncbi.nlm.nih.gov/17497724