Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta

M. Balasubramanian; J. Hurst; S. Brown; N. J. Bishop; P. Arundel; C. DeVile; R. C. Pollitt; L. Crooks; D. Longman; J. F. Caceres; F. Shackley; S. Connolly; J. H. Payne; A. C. Offiah; D. Hughes; M. J. Parker; W. Hide; T. M. Skerry

doi:10.1016/j.bone.2016.10.023

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta

M. Balasubramanian^*, J. Hurst, S. Brown, N. J. Bishop, P. Arundel, C. DeVile, R. C. Pollitt, L. Crooks, D. Longman, J. F. Caceres, F. Shackley, S. Connolly, J. H. Payne, A. C. Offiah, D. Hughes, M. J. Parker, W. Hide, T. M. Skerry

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

49 Citations (SciVal)

Original language	English
Pages (from-to)	65-74
Number of pages	10
Journal	Bone
Volume	94
DOIs	https://doi.org/10.1016/j.bone.2016.10.023
Publication status	Published (VoR) - 1 Jan 2017

Funding

Patient 2: The Deciphering Developmental Disorders (DDD) study presents independent research commissioned by the Health Innovation Challenge Fund [grant number HICF-1009-003 ], a parallel funding partnership between the Wellcome Trust and the Department of Health , and the Wellcome Trust Sanger Institute [grant number WT098051 ]. The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12 granted by the Republic of Ireland REC). The research team acknowledges the support of the National Institute for Health Research , through the Comprehensive Clinical Research Network. Patient 1: This research was supported by The Sheffield Children's Hospital Charity (TCHC) grant number CA15001 .

Keywords

Bone
Collagen expression
Fragility
NBAS
Nonsense mediated decay (NMD)
Osteogenesis imperfecta
Secretory pathway

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10.1016/j.bone.2016.10.023

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Balasubramanian, M., Hurst, J., Brown, S., Bishop, N. J., Arundel, P., DeVile, C., Pollitt, R. C., Crooks, L., Longman, D., Caceres, J. F., Shackley, F., Connolly, S., Payne, J. H., Offiah, A. C., Hughes, D., Parker, M. J., Hide, W., & Skerry, T. M. (2017). Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. Bone, 94, 65-74. https://doi.org/10.1016/j.bone.2016.10.023

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title = "Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta",

keywords = "Bone, Collagen expression, Fragility, NBAS, Nonsense mediated decay (NMD), Osteogenesis imperfecta, Secretory pathway",

author = "M. Balasubramanian and J. Hurst and S. Brown and Bishop, \{N. J.\} and P. Arundel and C. DeVile and Pollitt, \{R. C.\} and L. Crooks and D. Longman and Caceres, \{J. F.\} and F. Shackley and S. Connolly and Payne, \{J. H.\} and Offiah, \{A. C.\} and D. Hughes and Parker, \{M. J.\} and W. Hide and Skerry, \{T. M.\}",

note = "Funding Information: Patient 2: The Deciphering Developmental Disorders (DDD) study presents independent research commissioned by the Health Innovation Challenge Fund [grant number HICF-1009-003 ], a parallel funding partnership between the Wellcome Trust and the Department of Health , and the Wellcome Trust Sanger Institute [grant number WT098051 ]. The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12 granted by the Republic of Ireland REC). The research team acknowledges the support of the National Institute for Health Research , through the Comprehensive Clinical Research Network. Funding Information: Patient 1: This research was supported by The Sheffield Children's Hospital Charity (TCHC) grant number CA15001 . Publisher Copyright: {\textcopyright} 2016 Elsevier Inc.",

year = "2017",

month = jan,

day = "1",

doi = "10.1016/j.bone.2016.10.023",

language = "English",

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Balasubramanian, M, Hurst, J, Brown, S, Bishop, NJ, Arundel, P, DeVile, C, Pollitt, RC, Crooks, L, Longman, D, Caceres, JF, Shackley, F, Connolly, S, Payne, JH, Offiah, AC, Hughes, D, Parker, MJ, Hide, W & Skerry, TM 2017, 'Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta', Bone, vol. 94, pp. 65-74. https://doi.org/10.1016/j.bone.2016.10.023

TY - JOUR

T1 - Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta

AU - Balasubramanian, M.

AU - Hurst, J.

AU - Brown, S.

AU - Bishop, N. J.

AU - Arundel, P.

AU - DeVile, C.

AU - Pollitt, R. C.

AU - Crooks, L.

AU - Longman, D.

AU - Caceres, J. F.

AU - Shackley, F.

AU - Connolly, S.

AU - Payne, J. H.

AU - Offiah, A. C.

AU - Hughes, D.

AU - Parker, M. J.

AU - Hide, W.

AU - Skerry, T. M.

N1 - Funding Information: Patient 2: The Deciphering Developmental Disorders (DDD) study presents independent research commissioned by the Health Innovation Challenge Fund [grant number HICF-1009-003 ], a parallel funding partnership between the Wellcome Trust and the Department of Health , and the Wellcome Trust Sanger Institute [grant number WT098051 ]. The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12 granted by the Republic of Ireland REC). The research team acknowledges the support of the National Institute for Health Research , through the Comprehensive Clinical Research Network. Funding Information: Patient 1: This research was supported by The Sheffield Children's Hospital Charity (TCHC) grant number CA15001 . Publisher Copyright: © 2016 Elsevier Inc.

PY - 2017/1/1

Y1 - 2017/1/1

KW - Bone

KW - Collagen expression

KW - Fragility

KW - NBAS

KW - Nonsense mediated decay (NMD)

KW - Osteogenesis imperfecta

KW - Secretory pathway

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DO - 10.1016/j.bone.2016.10.023

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AN - SCOPUS:84993983156

SN - 8756-3282

VL - 94

SP - 65

EP - 74

JO - Bone

JF - Bone

ER -

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta

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Keywords

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