Kathryn North

Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation.

Victoria L Wyckelsma, Tomas Venckunas, Peter J Houweling, Maja Schlittler, Volker M Lauschke, Chrystal F Tiong, Harrison D Wood, Niklas Ivarsson, Henrikas Paulauskas, Nerijus Eimantas, Daniel C Andersson, Kathryn N North, Marius Brazaitis, Håkan Westerblad

Journal article  |  2021  |  American Journal of Human Genetics

The protein α-actinin-3 expressed in fast-twitch skeletal muscle fiber is absent in 1.5 billion people worldwide due to homozygosi..

Autism in neurofibromatosis type 1: misuse of covariance to dismiss autistic trait burden.

Stephanie M Morris, Maria T Acosta, Shruti Garg, Jonathan Green, Eric Legius, Kathryn North, Jonathan M Payne, Lauren A Weiss, John N Constantino, David H Gutmann

Journal article  |  2021  |  Developmental Medicine & Child Neurology

Generation of four iPSC lines from Neurofibromatosis Type 1 patients

Kiymet Bozaoglu, Wei Shern Lee, Kristina M Haebich, Kathryn N North, Jonathan M Payne, Paul J Lockhart

Journal article  |  2020  |  Stem Cell Research

We describe the generation and characterisation of four human induced pluripotent stem cell (iPSC) lines from peripheral blood mon..

Profiling the Word Reading Abilities of School-Age Children with Neurofibromatosis Type 1.

Shelley S Arnold, Jonathan M Payne, Genevieve McArthur, Kathryn N North, Belinda Barton

Journal article  |  2020  |  Journal of the International Neuropsychological Society

OBJECTIVE: Reading difficulties are one of the most significant challenges for children with neurofibromatosis type 1 (NF1). The a..

ACTN3 genotype influences skeletal muscle mass regulation and the response to dexamethasone

Jane Seto, Kelly Roeszler, Lyra Meehan, Harrison Wood, Chrystal Tiong, Lucinda Bek, Cheryl Lee, Paul Gregorevic, Peter Houweling, Kathryn North

Conference Proceedings  |  2020  |  Neuromuscular Disorders

Social skills and autism spectrum disorder symptoms in children with neurofibromatosis type 1: evidence for clinical trial outcomes.

Jonathan M Payne, Karin S Walsh, Natalie A Pride, Kristina M Haebich, Alice Maier, Anita Chisholm, Danielle M Glad, Christina L Casnar, Melissa Rouel, Jennifer Lorenzo, Allison Del Castillo, Kathryn N North, Bonita Klein-Tasman

Journal article  |  2020  |  Developmental Medicine & Child Neurology

AIM: We examined key features of two outcome measures for social dysfunction and autism spectrum disorder traits, the Social Respo..

Eosinophil function in adipose tissue is regulated by Kruppel-like factor 3 (KLF3)

Alexander J Knights, Emily J Vohralik, Peter J Houweling, Elizabeth S Stout, Laura J Norton, Stephanie J Alexopoulos, Jinfen J Yik, Hanapi Mat Jusoh, Ellen M Olzomer, Kim S Bell-Anderson, Kathryn N North, Kyle L Hoehn, Merlin Crossley, Kate GR Quinlan

Journal article  |  2020  |  Nature Communications

The conversion of white adipocytes to thermogenic beige adipocytes represents a potential mechanism to treat obesity and related m..

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.

Pietro Spitali, Irina Zaharieva, Stefan Bohringer, Monika Hiller, Amina Chaouch, Andreas Roos, Chiara Scotton, Mireille Claustres, Luca Bello, Craig M McDonald, Eric P Hoffman, undefined CINRG Investigators, Zaida Koeks, H Eka Suchiman, Sebahattin Cirak, Mariacristina Scoto, Mojgan Reza, Peter AC 't Hoen, Erik H Niks, Sylvie Tuffery-Giraud, et al.

Journal article  |  2020  |  European Journal of Human Genetics

Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the DMD gene leading to the lack of dystrophin. Variability ..

Visual spatial learning outcomes for clinical trials in neurofibromatosis type 1

Nicole J Ullrich, Jonathan M Payne, Karin S Walsh, Gary Cutter, Roger Packer, Kathryn North, Celiane Rey-Casserly

Journal article  |  2020  |  Annals of Clinical and Translational Neurology

Cognitive problems are common in children with neurofibromatosis type 1, representing a significant source of lifelong morbidity. ..

A brief history of human disease genetics.

Melina Claussnitzer, Judy H Cho, Rory Collins, Nancy J Cox, Emmanouil T Dermitzakis, Matthew E Hurles, Sekar Kathiresan, Eimear E Kenny, Cecilia M Lindgren, Daniel G MacArthur, Kathryn N North, Sharon E Plon, Heidi L Rehm, Neil Risch, Charles N Rotimi, Jay Shendure, Nicole Soranzo, Mark I McCarthy

Journal article  |  2020  |  Nature

A primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related..