OpenURL Connection Search

Select item for more details and to access through your institution.

Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
Published in:
Clinical Genetics, 2015, v. 87, n. 5, p. 448, doi. 10.1111/cge.12428
By:
- Saint‐Martin, C.;
- Zhou, Q.;
- Martin, G.M.;
- Vaury, C.;
- Leroy, G.;
- Arnoux, J.‐B.;
- de Lonlay, P.;
- Shyng, S.‐L.;
- Bellanné‐Chantelot, C.
Publication type:
Article
ATP inhibition of K<sub>ATP</sub> channels: control of nucleotide sensitivity by the N-terminal domain of the Kir6.2 subunit.
Published in:
Journal of Physiology, 1999, v. 515, n. 1, p. 19, doi. 10.1111/j.1469-7793.1999.019ad.x
By:
- Koster, J. C.;
- Sha, Q.;
- Shyng, S.-L.;
- Nichols, C. G.
Publication type:
Article
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
Published in:
2013
By:
- Snider KE;
- Becker S;
- Boyajian L;
- Shyng SL;
- Macmullen C;
- Hughes N;
- Ganapathy K;
- Bhatti T;
- Stanley CA;
- Ganguly A;
- Snider, K E;
- Becker, S;
- Boyajian, L;
- Shyng, S-L;
- MacMullen, C;
- Hughes, N;
- Ganapathy, K;
- Bhatti, T;
- Stanley, C A;
- Ganguly, A
Publication type:
journal article
Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.
Published in:
2007
By:
- Yan F;
- Lin Y;
- MacMullen C;
- Ganguly A;
- Stanley CA;
- Shyng S;
- Yan, Fei-Fei;
- Lin, Yu-Wen;
- MacMullen, Courtney;
- Ganguly, Arupa;
- Stanley, Charles A;
- Shyng, Show-Ling
Publication type:
journal article
Kir6.2 mutations associated with neonatal diabetes reduce expression of ATP-sensitive K+ channels: implications in disease mechanism and sulfonylurea therapy.
Published in:
2006
By:
- Lin C;
- Lin Y;
- Yan F;
- Casey J;
- Kochhar M;
- Pratt EB;
- Shyng S;
- Lin, Chia-Wei;
- Lin, Yu-Wen;
- Yan, Fei-Fei;
- Casey, Jillene;
- Kochhar, Malini;
- Pratt, Emily B;
- Shyng, Show-Ling
Publication type:
journal article
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.
Published in:
1998
By:
- Shyng, S L;
- Ferrigni, T;
- Shepard, J B;
- Nestorowicz, A;
- Glaser, B;
- Permutt, M A;
- Nichols, C G
Publication type:
journal article

Found: 6

Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.

ATP inhibition of K<sub>ATP</sub> channels: control of nucleotide sensitivity by the N-terminal domain of the Kir6.2 subunit.

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.

Kir6.2 mutations associated with neonatal diabetes reduce expression of ATP-sensitive K+ channels: implications in disease mechanism and sulfonylurea therapy.

Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.