Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

I Garin; EL Edghill; I Akerman; O Rubio-Cabezas; I Rica; JM Locke; Maestro M Angel; A Alshaikh; R Bundak; Castillo G del; A Deeb; D Deiss; JM Fernandez; K Godbole; K Hussain; M O'Connell; T Klupa; S Kolouskova; F Mohsin; K Perlman; Z Sumnik; JM Rial; E Ugarte; T Vasanthi; K Johnstone; SE Flanagan; R Martinez; C Castano; A-M Patch; E Fernandez-Rebollo; K Raile; N Morgan; LW Harries; L Castano; S Ellard; J Ferrer; de Nanclares G Perez; AT Hattersley

doi:10.1073/pnas.0910533107

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

I Garin
, EL Edghill
, I Akerman
, O Rubio-Cabezas
, I Rica
, JM Locke
, Maestro M Angel
, A Alshaikh
, R Bundak
, Castillo G del
, A Deeb
, D Deiss
, JM Fernandez
, K Godbole
, K Hussain
, M O'Connell
, T Klupa
, S Kolouskova
, F Mohsin
, K Perlman

Z Sumnik, JM Rial, E Ugarte, T Vasanthi, K Johnstone, SE Flanagan, R Martinez, C Castano, A-M Patch, E Fernandez-Rebollo, K Raile, N Morgan, LW Harries, L Castano, S Ellard, J Ferrer, de Nanclares G Perez, AT Hattersley

Peninsula Medical School

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

Original language	English
Pages (from-to)	3105-3110
Number of pages	0
Journal	Proceedings of the National Academy of Sciences of the United States of America
Volume	107
Issue number	7
DOIs	https://doi.org/10.1073/pnas.0910533107
Publication status	Published - 2010

Keywords

gene regulation
genetic testing
gene expression regulation
RNA instability
promoter regions

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1073/pnas.0910533107

Cite this

Garin, I., Edghill, EL., Akerman, I., Rubio-Cabezas, O., Rica, I., Locke, JM., Angel, M. M., Alshaikh, A., Bundak, R., del, C. G., Deeb, A., Deiss, D., Fernandez, JM., Godbole, K., Hussain, K., O'Connell, M., Klupa, T., Kolouskova, S., Mohsin, F., ... Hattersley, AT. (2010). Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proceedings of the National Academy of Sciences of the United States of America, 107(7), 3105-3110. https://doi.org/10.1073/pnas.0910533107

@article{903e3693b5da45ed887cb661a6a2cd84,

title = "Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis",

keywords = "gene regulation, genetic testing, gene expression regulation, RNA instability, promoter regions",

author = "I Garin and EL Edghill and I Akerman and O Rubio-Cabezas and I Rica and JM Locke and Angel, \{Maestro M\} and A Alshaikh and R Bundak and del, \{Castillo G\} and A Deeb and D Deiss and JM Fernandez and K Godbole and K Hussain and M O'Connell and T Klupa and S Kolouskova and F Mohsin and K Perlman and Z Sumnik and JM Rial and E Ugarte and T Vasanthi and K Johnstone and SE Flanagan and R Martinez and C Castano and A-M Patch and E Fernandez-Rebollo and K Raile and N Morgan and LW Harries and L Castano and S Ellard and J Ferrer and Perez, \{de Nanclares G\} and AT Hattersley",

year = "2010",

doi = "10.1073/pnas.0910533107",

language = "English",

volume = "107",

pages = "3105--3110",

journal = "Proceedings of the National Academy of Sciences of the United States of America",

issn = "0027-8424",

publisher = "National Academy of Sciences",

number = "7",

}

Garin, I, Edghill, EL, Akerman, I, Rubio-Cabezas, O, Rica, I, Locke, JM, Angel, MM, Alshaikh, A, Bundak, R, del, CG, Deeb, A, Deiss, D, Fernandez, JM, Godbole, K, Hussain, K, O'Connell, M, Klupa, T, Kolouskova, S, Mohsin, F, Perlman, K, Sumnik, Z, Rial, JM, Ugarte, E, Vasanthi, T, Johnstone, K, Flanagan, SE, Martinez, R, Castano, C, Patch, A-M, Fernandez-Rebollo, E, Raile, K, Morgan, N, Harries, LW, Castano, L, Ellard, S, Ferrer, J, Perez, DNG & Hattersley, AT 2010, 'Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis', Proceedings of the National Academy of Sciences of the United States of America, vol. 107, no. 7, pp. 3105-3110. https://doi.org/10.1073/pnas.0910533107

TY - JOUR

T1 - Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

AU - Garin, I

AU - Edghill, EL

AU - Akerman, I

AU - Rubio-Cabezas, O

AU - Rica, I

AU - Locke, JM

AU - Angel, Maestro M

AU - Alshaikh, A

AU - Bundak, R

AU - del, Castillo G

AU - Deeb, A

AU - Deiss, D

AU - Fernandez, JM

AU - Godbole, K

AU - Hussain, K

AU - O'Connell, M

AU - Klupa, T

AU - Kolouskova, S

AU - Mohsin, F

AU - Perlman, K

AU - Sumnik, Z

AU - Rial, JM

AU - Ugarte, E

AU - Vasanthi, T

AU - Johnstone, K

AU - Flanagan, SE

AU - Martinez, R

AU - Castano, C

AU - Patch, A-M

AU - Fernandez-Rebollo, E

AU - Raile, K

AU - Morgan, N

AU - Harries, LW

AU - Castano, L

AU - Ellard, S

AU - Ferrer, J

AU - Perez, de Nanclares G

AU - Hattersley, AT

PY - 2010

Y1 - 2010

KW - gene regulation

KW - genetic testing

KW - gene expression regulation

KW - RNA instability

KW - promoter regions

U2 - 10.1073/pnas.0910533107

DO - 10.1073/pnas.0910533107

M3 - Article

SN - 0027-8424

VL - 107

SP - 3105

EP - 3110

JO - Proceedings of the National Academy of Sciences of the United States of America

JF - Proceedings of the National Academy of Sciences of the United States of America

IS - 7

ER -