Kathryn North

ACTN3 genotype influences skeletal muscle mass regulation and response to dexamethasone

Jane T Seto, Kelly N Roeszler, Lyra R Meehan, Harrison D Wood, Chrystal Tiong, Lucinda Bek, Siaw F Lee, Manan Shah, Kate GR Quinlan, Paul Gregorevic, Peter J Houweling, Kathryn N North

Journal article  |  2021  |  SCIENCE ADVANCES

Homozygosity for the common ACTN3 null polymorphism (ACTN3 577X) results in α-actinin-3 deficiency in ~20% of humans worldwide and..

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  |  2021  |  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..

Loss of alpha-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, Hakan 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..

PanelApp: accelerating international consensus on virtual gene panels through collaboration on a federated open platform

Z Stark, RE Foulger, E Williams, B Thompson, C Patel, IUS Leong, LC Daugherty, S Leigh, C Snow, C Boustred, O Niblock, A Rueda-Martin, O Gerasimenko, E Ivanov, K Savage, W Bellamy, V San Kho Lin, R Valls, L Gordon, H Brittain, et al.

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

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..

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

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  |  2020  |  DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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 AND 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..

Isolated Extensor Digitorum Longus Muscles from Old mdx Dystrophic Mice Show Little Force Recovery 120 Minutes after Eccentric Damage

Leonit Kiriaev, Sindy Kueh, John W Morley, Kathryn N North, Peter J Houweling, Stewart I Head

Conference Proceedings  |  2020  |  BIOPHYSICAL JOURNAL