Publications by authors named "Christopher Esapa"

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Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.
Christopher T Esapa, R A Jeffrey McIlhinney, Adrian J Waite, Matthew A Benson, Jasmin Mirzayan

Front Mol Biosci· December 2023

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Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.
Lucy A Dunbar, Pranav Patni, Carlos Aguilar, Philomena Mburu, Laura Corns, Christopher T Esapa

EMBO Mol Med· September 2019

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Helios is a key transcriptional regulator of outer hair cell maturation.
Lauren Chessum, Maggie S Matern, Michael C Kelly, Stuart L Johnson, Yoko Ogawa, Christopher T Esapa

Nature· November 2018

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An -Ethyl--Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion.
Christopher T Esapa, Sian E Piret, M Andrew Nesbit, Gethin P Thomas, Leslie A Coulton

JBMR Plus· May 2018

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Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway.
Christopher T Esapa, Sian E Piret, M Andrew Nesbit, Nellie Y Loh, Gethin Thomas

PLoS One· June 2017

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Haploinsufficiency of the Insulin Receptor in the Presence of a Splice-Site Mutation in Ppp2r2a Results in a Novel Digenic Mouse Model of Type 2 Diabetes.
Michelle Goldsworthy, Ying Bai, Chi-Ming Li, Huanying Ge, Edwin Lamas, Christopher T Esapa

Diabetes· May 2016

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N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models.
Christopher T Esapa, Fadil M Hannan, Valerie N Babinsky, Paul Potter, Gethin P Thomas

PLoS One· March 2016

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Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.
Peter I Joyce, Pietro Fratta, Allison S Landman, Philip Mcgoldrick, Henning Wackerhage, Christopher Esapa

Hum Mol Genet· January 2016

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The Regulatory Factor ZFHX3 Modifies Circadian Function in SCN via an AT Motif-Driven Axis.
Michael J Parsons, Marco Brancaccio, Siddharth Sethi, Elizabeth S Maywood, Rahul Satija, Christopher Esapa

Cell· July 2015

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An N-ethyl-N-nitrosourea induced corticotropin-releasing hormone promoter mutation provides a mouse model for endogenous glucocorticoid excess.
Liz Bentley, Christopher T Esapa, M Andrew Nesbit, Rosie A Head, Holly Evans

Endocrinology· March 2014

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GATA3 mutations found in breast cancers may be associated with aberrant nuclear localization, reduced transactivation and cell invasiveness.
Katherine U Gaynor, Irina V Grigorieva, Michael D Allen, Christopher T Esapa, Rosemary A Head

Horm Cancer· June 2013

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A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.
Christopher T Esapa, Rosie A Head, Jeshmi Jeyabalan, Holly Evans, Tertius A Hough

PLoS One· May 2013

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A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation.
Sian E Piret, Christopher T Esapa, Caroline M Gorvin, Rosie Head, Nellie Y Loh

PLoS One· February 2013

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Bone Mineral Content and Density.
Christopher T Esapa, J H Duncan Bassett, Holly Evans, Peter I Croucher, Graham R Williams

Curr Protoc Mouse Biol· December 2012

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Significant deterioration in nanomechanical quality occurs through incomplete extrafibrillar mineralization in rachitic bone: evidence from in-situ synchrotron X-ray scattering and backscattered electron imaging.
Angelo Karunaratne, Christopher R Esapa, Jennifer Hiller, Alan Boyde, Rosie Head

J Bone Miner Res· April 2012

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A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation.
Christopher T Esapa, Tertius A Hough, Sarah Testori, Rosie A Head, Elizabeth A Crane

J Bone Miner Res· February 2012

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Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.
Elizabeth Keramaris-Vrantsis, Pei J Lu, Timothy Doran, Allen Zillmer, Jignya Ashar, Christopher T Esapa

Muscle Nerve· October 2007

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SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.
Christopher T Esapa, Adrian Waite, Matthew Locke, Matthew A Benson, Michaela Kraus

Hum Mol Genet· February 2007

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Glycosylation defects and muscular dystrophy.
Derek J Blake, Christopher T Esapa, Enca Martin-Rendon, R A Jeffrey McIlhinney

Adv Exp Med Biol· February 2006

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Islet amyloid polypeptide gene promoter polymorphisms are not associated with Type 2 diabetes or with the severity of islet amyloidosis.
Christopher Esapa, Jennifer H Moffitt, Anna Novials, Catherine M McNamara, Jonathan C Levy

Biochim Biophys Acta· April 2005

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Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
Christopher T Esapa, R A Jeffrey McIlhinney, Derek J Blake

Hum Mol Genet· January 2005

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The adenosine A2A receptor interacts with the actin-binding protein alpha-actinin.
Javier Burgueño, Derek J Blake, Matthew A Benson, Caroline L Tinsley, Christopher T Esapa

J Biol Chem· September 2003

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G protein mutations in pituitary tumors: a study on Turkish patients.
Beki Kan, Christopher Esapa, Tammam Sipahi, Cevdet Nacar, Fahir Ozer

Pituitary· September 2003

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