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1

Helios is a key transcriptional regulator of outer hair cell maturation

Chessum, Lauren, Matern, Maggie S., Kelly, Michael C., Johnson, Stuart L., Ogawa, Yoko, Milon, Beatrice, McMurray, Mark, Driver, Elizabeth C., Parker, Andrew, Song, Yang, Codner, Gemma, Esapa, Christo

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 22.82 MB

english, 2018

2

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, Matthew A. Benson, Derek J. Blake, Jeffrey Rosenfeld, Qi L. Lu

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 599 KB

english, 2007

3

Safety and Biodistribution of an Equine Infectious Anemia Virus-Based Gene Therapy, RetinoStat ® , for Age-Related Macular Degeneration

Binley, Katie, Widdowson, Peter S., Kelleher, Michelle, de Belin, Jackie, Loader, Julie, Ferrige, Georgina, Carlucci, Marie, Esapa, Margaret, Chipchase, Daniel, Angell-Manning, Diana, Ellis, Scott, Mi

Journal:

Human Gene Therapy

Année:

2012

Langue:

english

Fichier:

PDF, 824 KB

english, 2012

4

The Regulatory Factor ZFHX3 Modifies Circadian Function in SCN via an AT Motif-Driven Axis

Parsons, Michael J., Brancaccio, Marco, Sethi, Siddharth, Maywood, Elizabeth S., Satija, Rahul, Edwards, Jessica K., Jagannath, Aarti, Couch, Yvonne, Finelli, Mattéa J., Smyllie, Nicola J., Esapa, Chr

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 3.04 MB

english, 2015

5

Approaches to Vaccination Among Populations in Areas of Conflict

Nnadi, Chimeremma, Etsano, Andrew, Uba, Belinda, Ohuabunwo, Chima, Melton, Musa, wa Nganda, Gatei, Esapa, Lisa, Bolu, Omotayo, Mahoney, Frank, Vertefeuille, John, Wiesen, Eric, Durry, Elias

Journal:

The Journal of Infectious Diseases

Année:

2017

Langue:

english

Fichier:

PDF, 112 KB

english, 2017

6

Stable and efficient intraocular gene transfer using pseudotyped EIAV lentiviral vectors

K. S. Balaggan, K. Binley, M. Esapa, S. Iqball, Z. Askham, O. Kan, M. Tschernutter, J. W. B. Bainbridge, S. Naylor, R. R. Ali

Journal:

The Journal of Gene Medicine

Année:

2006

Langue:

english

Fichier:

PDF, 461 KB

english, 2006

7

Prevalence of Ras mutations in thyroid neoplasia

Christopher T. Esapa, Sarah J. Johnson, Pat Kendall-Taylor, Tom W. J. Lennard, Philip E. Harris

Journal:

Clinical Endocrinology

Année:

1999

Langue:

english

Fichier:

PDF, 140 KB

english, 1999

8

Direct retroviral delivery of human cytochrome P450 2B6 for gene-directed enzyme prodrug therapy of cancer

Kan, On, Griffiths, Leigh, Baban, Dilair, Iqball, Sharifah, Uden, Mark, Spearman, Hayley, Slingsby, Jason, Price, Toby, Esapa, Margaret, Kingsman, Susan

Journal:

Cancer Gene Therapy

Année:

2001

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2001

9

EIAV vector-mediated delivery of endostatin or angiostatin inhibits angiogenesis and vascular hyperpermeability in experimental CNV

Balaggan, K S, Binley, K, Esapa, M, MacLaren, R E, Iqball, S, Duran, Y, Pearson, R A, Kan, O, Barker, S E, Smith, A J

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 512 KB

english, 2006

10

G Protein Mutations in Pituitary Tumors: A Study on Turkish Patients

Beki Kan, Christopher Esapa, Tammam Sipahi, Cevdet Nacar, Fahir Özer, Nur Buyru Sayhan, Mehmet Yaşar Kaynar, Ali Çetin Sarıoğlu, Philip Edward Harris

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 115 KB

english, 2003

11

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, JH Duncan Bassett, Nicholas J Terrill, Graham R Williams, Matthew A Brown, Peter I Croucher, Steve DM Brown, Roger D C

Journal:

Journal of Bone and Mineral Research

Année:

2012

Langue:

english

Fichier:

PDF, 829 KB

english, 2012

12

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, Carol PS Chan, Holly Evans, JH Duncan Bassett, Przemko Tylzanowski, Eugene G McNally, Andrew J Carr, Alan Boyde, P

Journal:

Journal of Bone and Mineral Research

Année:

2012

Langue:

english

Fichier:

PDF, 2.42 MB

english, 2012

13

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, Marku Laakso, Ramon Gomis, Anne Clark

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2005

Langue:

english

Fichier:

PDF, 153 KB

english, 2005

14

Genetic models of bone disease using ENU mutagenesis

S.D.M. Brown, C.T. Esapa, I. Barbaric, T. Hough, M. Brown, P. Croucher, R. Head, C. Chan, E. Crane, R. Cox, M. Cheeseman, R.V. Thakker

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 61 KB

english, 2009

15

Disruption in fibrillar level fracture mechanisms in rachitic mice bone: Measured using in-situ cantilever bending with microfocus saxd

A. Karunaratne⁎, C. Esapa, J. Hiller, N. Terril, S. Brown, R. Cox, R. Thakker, H. Gupta

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 132 KB

english, 2012

16

Hypophosphatemic rickets is associated with disruption of mineral orientation at the nanoscale in the flat scapula bones of rachitic mice with development

A. Karunaratne, G.R. Davis, J. Hiller, C.T. Esapa, N.J. Terrill, S.D.M. Brown, R.D. Cox, R.V. Thakker, H.S. Gupta

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 1.50 MB

english, 2012

17

Dystroglycan regulates structure, proliferation and differentiation of neuroepithelial cells in the developing vertebrate CNS

Jörn E. Schröder, Marion R. Tegeler, Uli Groβhans, Elmar Porten, Martina Blank, Jun Lee, Chris Esapa, Derek J. Blake, Stephan Kröger

Journal:

Developmental Biology

Année:

2007

Langue:

english

Fichier:

PDF, 3.07 MB

english, 2007

18

The effects of post-translational processing on dystroglycan synthesis and trafficking

Chris T. Esapa, Graham R.B. Bentham, Jörn E. Schröder, Stephan Kröger, Derek J. Blake

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 701 KB

english, 2003

19

DISRUPTION OF MUSCLE STRESS-MEDIATED MINERAL ORIENTATION AT THE NANOSCALE IN THE SCAPULAR BONES OF RICKETS MICE WITH DEVELOPMENT

Angelo Karunaratne, Graham Davis, Jen Hiller, Chris Esapa, Nick Terrill, Steve Brown, Roger Cox, Rajesh Thakker, Himadri Gupta

Journal:

Journal of Biomechanics

Année:

2012

Langue:

english

Fichier:

PDF, 235 KB

english, 2012

20

A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 Mutation and Showing Loss of the Wild-Type Alleles in the Parathyroid Tumors

Bin T. Teh, Christopher T. Esapa, Richard Houlston, Ulla Grandell, Filip Farnebo, Magnus Nordenskjöld, Christopher J. Pearce, David Carmichael, Catharina Larsson, Philip E. Harris

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 165 KB

english, 1998

21

Symmetrically reduced stiffness and increased extensibility in compression and tension at the mineralized fibrillar level in rachitic bone

A. Karunaratne, A. Boyde, C.T. Esapa, J. Hiller, N.J. Terrill, S.D.M. Brown, R.D. Cox, R.V. Thakker, H.S. Gupta

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2013

22

GATA3 Mutations Found in Breast Cancers May Be Associated with Aberrant Nuclear Localization, Reduced Transactivation and Cell Invasiveness

Gaynor, Katherine U., Grigorieva, Irina V., Allen, Michael D., Esapa, Christopher T., Head, Rosemary A., Gopinath, Preethi, Christie, Paul T., Nesbit, M. Andrew, Jones, J. Louise, Thakker, Rajesh V.

Journal:

Hormones and Cancer

Année:

2013

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2013

23

A Novel Thyrotropin Receptor Mutation in an Infant with Severe Thyrotoxicosis

ESAPA, C.T., DUPREZ, L., LUDGATE, M., MUSTAFA, M.S., KENDALL-TAYLOR, P., VASSART, G., HARRIS, P.E.

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 2.00 MB

english, 1999

24

Brief Report: Analysis of 4070A Envelope Levels in Retroviral Preparations and Effect on Target Cell Transduction Efficiency

Slingsby, Jason H., Baban, Dilair, Sutton, Julia, Esapa, Margaret, Price, Toby, Slade, Andrew, Kingsman, Susan M., Kingsman, Alan J.

Journal:

Human Gene Therapy

Année:

2000

Langue:

english

Fichier:

PDF, 443 KB

english, 2000

25

G Protein and Thyrotropin Receptor Mutations in Thyroid Neoplasia 1

Esapa, Christopher, Foster, Sally, Johnson, Sarah, Jameson, J. Larry, Kendall-Taylor, Patricia, Harris, Philip E.

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

1997

Langue:

english

Fichier:

PDF, 157 KB

english, 1997

26

96. Ocular Gene Transfer Using EIAV Vectors and an RPE-Specific Promoter

KACHI, S, BINLEY, K, UMEDA, N, AKIYAMA, H, LIMAESILVA, R, XIAO, W, KACHI, M, ESAPA, M, IQBALL, S, NAYLOR, S

Journal:

Molecular Therapy

Année:

2005

Langue:

english

Fichier:

PDF, 78 KB

english, 2005

27

Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells

Journal:

Human Molecular Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 393 KB

english, 2004

28

The Adenosine A2A Receptor Interacts with the Actin-binding Protein -Actinin

Burgueno, J., Blake, D. J., Benson, M. A., Tinsley, C. L., Esapa, C. T., Canela, E. I., Penela, P., Mallol, J., Mayor, F., Lluis, C., Franco, R., Ciruela, F.

Journal:

Journal of Biological Chemistry

Année:

2003

Langue:

english

Fichier:

PDF, 981 KB

english, 2003

29

Mutation analysis of protein kinase A catalytic subunit in thyroid adenomas and pituitary tumours

Esapa, C., Harris, P.

Journal:

European Journal of Endocrinology

Année:

1999

Langue:

english

Fichier:

PDF, 167 KB

english, 1999

30

Functional requirements for fukutin-related protein in the Golgi apparatus

Journal:

Human Molecular Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 1.66 MB

english, 2002

31

An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess

Bentley, Liz, Esapa, Christopher T., Nesbit, M. Andrew, Head, Rosie A., Evans, Holly, Lath, Darren, Scudamore, Cheryl L., Hough, Tertius A., Podrini, Christine, Hannan, Fadil M., Fraser, William D., C

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 3.15 MB

english, 2014

32

Multiscale alterations in bone matrix quality increased fragility in steroid induced osteoporosis

Karunaratne, A., Xi, L., Bentley, L., Sykes, D., Boyde, A., Esapa, C.T., Terrill, N.J., Brown, S.D.M., Cox, R.D., Thakker, R.V., Gupta, H.S.

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 1.72 MB

english, 2015

33

SGCE missense mutations that cause myoclonus-dystonia syndrome impair -sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA

Esapa, C. T., Waite, A., Locke, M., Benson, M. A., Kraus, M., McIlhinney, R.A. J., Sillitoe, R. V., Beesley, P. W., Blake, D. J.

Journal:

Human Molecular Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 1.64 MB

english, 2006

34

Haplo-Insufficiency of the Insulin Receptor in the presence of a splice-site mutation in Ppp2r2a results in a novel di-genic mouse model of type 2 diabetes

Goldsworthy, Michelle, Bai, Ying, Li, Chi-Ming, Ge, Huanying, Lamas, Edwin, Hilton, Helen, Esapa, Christopher T, Baker, Dan, Baron, Will, Juan, Todd, Véniant, Murielle M, Lloyd, David J, Cox, Roger D

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 1.97 MB

english, 2016

35

Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration

Joyce, Peter I., Fratta, Pietro, Landman, Allison S., Mcgoldrick, Philip, Wackerhage, Henning, Groves, Michael, Busam, Bharani Shiva, Galino, Jorge, Corrochano, Silvia, Beskina, Olga A., Esapa, Christ

Journal:

Human Molecular Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.82 MB

english, 2016

36

Novel models of late onset, progressive osteoarthritis caused by point mutations in the two alpha chains of collagen type I

Blease, A.M., Wisby, L., Haynes, A.R., Nicol, T.L., Falcone, S., Lad, H., Esapa, C.T., Horwood, N., Thorpe, C.T., Thakker, R.V., Screen, H.R., Vincent, T.L., Brown, S.D., Potter, P.K.

Journal:

Osteoarthritis and Cartilage

Année:

2017

Langue:

english

Fichier:

PDF, 50 KB

english, 2017

37

An N -Ethyl- N -Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion

Esapa, Christopher T, Piret, Sian E, Nesbit, M Andrew, Thomas, Gethin P, Coulton, Leslie A, Gallagher, Orla M, Simon, Michelle M, Kumar, Saumya, Mallon, Ann-Marie, Bellantuono, Ilaria, Brown, Matthew

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 1.78 MB

english, 2018

38

Bone matrix development in steroid-induced osteoporosis is associated with a consistently reduced fibrillar stiffness linked to altered bone mineral quality

Xi, L., De Falco, P., Barbieri, E., Karunaratne, A., Bentley, L., Esapa, C.T., Terrill, N.J., Brown, S.D.M., Cox, R.D., Davis, G.R., Pugno, N.M., Thakker, R.V., Gupta, H.S.

Journal:

Acta Biomaterialia

Année:

2018

Langue:

english

Fichier:

PDF, 2.49 MB

english, 2018

39

A Mouse with an N-Ethyl-N-Nitrosourea (ENU) Induced Trp589Arg Galnt3 Mutation Represents a Model for Hyperphosphataemic Familial Tumoural Calcinosis

Esapa, Christopher T., Head, Rosie A., Jeyabalan, Jeshmi, Evans, Holly, Hough, Tertius A., Cheeseman, Michael T., McNally, Eugene G., Carr, Andrew J., Thomas, Gethin P., Brown, Matthew A., Croucher, P

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 1.75 MB

english, 2012

40

A Mouse Model of Early-Onset Renal Failure Due to a Xanthine Dehydrogenase Nonsense Mutation

Piret, Sian E., Esapa, Christopher T., Gorvin, Caroline M., Head, Rosie, Loh, Nellie Y., Devuyst, Olivier, Thomas, Gethin, Brown, Steve D. M., Brown, Matthew, Croucher, Peter, Cox, Roger, Thakker, Raj

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 7.81 MB

english, 2012

41

A Novel Mouse Fgfr2 Mutant, Hobbyhorse (hob), Exhibits Complete XY Gonadal Sex Reversal

Siggers, Pam, Carré, Gwenn-Aël, Bogani, Debora, Warr, Nick, Wells, Sara, Hilton, Helen, Esapa, Chris, Hajihosseini, Mohammad K., Greenfield, Andy, Wolfe, Andrew

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 6.90 MB

english, 2014

42

Polio Legacy in Action: Using the Polio Eradication Infrastructure for Measles Elimination in Nigeria—The National Stop Transmission of Polio Program

Michael, Charles A., Waziri, Ndadilnasiya, Gunnala, Rajni, Biya, Oladayo, Kretsinger, Katrina, Wiesen, Eric, Goodson, James L., Esapa, Lisa, Gidado, Saheed, Uba, Belinda, Nguku, Patrick, Cochi, Stephe

Journal:

The Journal of Infectious Diseases

Année:

2017

Langue:

english

Fichier:

PDF, 1.36 MB

english, 2017

43

Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling

Richards, Taylor, Modarage, Kavindiya, Dean, Charlotte, McCarthy-Boxer, Aidan, Hilton, Helen, Esapa, Chris, Norman, Jill, Wilson, Patricia, Goggolidou, Paraskevi

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2018

Langue:

english

Fichier:

PDF, 25.27 MB

english, 2018

44

A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways

Agnew, Thomas, Goldsworthy, Michelle, Aguilar, Carlos, Morgan, Anna, Simon, Michelle, Hilton, Helen, Esapa, Chris, Wu, Yixing, Cater, Heather, Bentley, Liz, Scudamore, Cheryl, Poulton, Joanna, Morten,

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 4.72 MB

english, 2018

45

Ciliary exclusion of Polycystin-2 promotes kidney cystogenesis in an autosomal dominant polycystic kidney disease model

Walker, Rebecca V., Keynton, Jennifer L., Grimes, Daniel T., Sreekumar, Vrinda, Williams, Debbie J., Esapa, Chris, Wu, Dongsheng, Knight, Martin M., Norris, Dominic P.

Journal:

Nature Communications

Année:

2019

Langue:

english

Fichier:

PDF, 6.24 MB

english, 2019

46

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

Tucci, Valter, Kleefstra, Tjitske, Hardy, Andrea, Heise, Ines, Maggi, Silvia, Willemsen, Marjolein H., Hilton, Helen, Esapa, Chris, Simon, Michelle, Buenavista, Maria-Teresa, McGuffin, Liam J., Vizor,

Journal:

Journal of Clinical Investigation

Année:

2014

Langue:

english

Fichier:

PDF, 3.83 MB

english, 2014

47

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

Tucci, Valter, Kleefstra, Tjitske, Hardy, Andrea, Heise, Ines, Maggi, Silvia, Willemsen, Marjolein H., Hilton, Helen, Esapa, Chris, Simon, Michelle, Buenavista, Maria-Teresa, McGuffin, Liam J., Vizor,

Journal:

Journal of Clinical Investigation

Année:

2014

Fichier:

PDF, 3.83 MB

2014

48

Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function

Dunbar, Lucy A, Patni, Pranav, Aguilar, Carlos, Mburu, Philomena, Corns, Laura, Wells, Helena RR, Delmaghani, Sedigheh, Parker, Andrew, Johnson, Stuart, Williams, Debbie, Esapa, Christopher T, Simon,

Journal:

EMBO Molecular Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 10.22 MB

english, 2019

49

Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function

Dunbar, Lucy A, Patni, Pranav, Aguilar, Carlos, Mburu, Philomena, Corns, Laura, Wells, Helena RR, Delmaghani, Sedigheh, Parker, Andrew, Johnson, Stuart, Williams, Debbie, Esapa, Christopher T, Simon,

Journal:

EMBO Molecular Medicine

Année:

2019

Fichier:

PDF, 10.22 MB

2019

50

Reduction of fibrillar strain-rate sensitivity in steroid-induced osteoporosis linked to changes in mineralized fibrillar nanostructure

Xi, L., De Falco, P., Barbieri, E., Karunaratne, A., Bentley, L., Esapa, C.T., Davis, G.R., Terrill, N.J., Cox, R.D., Pugno, N.M., Thakker, R.V., Weinkamer, R., Wu, W.W., Fang, D.N., Gupta, H.S.

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 3.75 MB

english, 2019