2024

Heterozygous missense variant in GLI2 impairs human endocrine pancreas development.
Mueller, L.M., Isaacson, A., Wilson, H., Salowka, A., Tay, I., Gong, M. ORCID: https://orcid.org/0000-0001-7384-3429, Samir Elbarbary, N., Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737 and Spagnoli, F.M. ORCID: https://orcid.org/0000-0001-7094-8188
Nature Communications 15 (1): 2483. 20 March 2024

2020

Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation.
Su, X., Feng, Y., Rahman, S.A., Wu, S., Li, G., Rüschendorf, F. ORCID: https://orcid.org/0000-0001-5640-810X, Zhao, L., Cui, H., Liang, J., Fang, L., Hu, H., Froehler, S. ORCID: https://orcid.org/0000-0001-8000-2927, Yu, Y., Patone, G. ORCID: https://orcid.org/0000-0002-7242-0341, Hummel, O. ORCID: https://orcid.org/0009-0000-9986-8333, Chen, Q., Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737, Luft, F.C. ORCID: https://orcid.org/0000-0002-8635-1199, Bähring, S. ORCID: https://orcid.org/0000-0001-8734-9755, Hussain, K., Chen, W. ORCID: https://orcid.org/0000-0003-3263-1627, Zhang, J. and Gong, M. ORCID: https://orcid.org/0000-0001-7384-3429
Journal of Genetics and Genomics 47 (10): 618-626. 20 October 2020

2019

Atp6ap2 deletion causes extensive vacuolation that consumes the insulin content of pancreatic β cells.
Binger, K.J. ORCID: https://orcid.org/0000-0003-1139-3308, Neukam, M., Tattikota, S.G. ORCID: https://orcid.org/0000-0003-0318-5533, Qadri, F. ORCID: https://orcid.org/0000-0002-8500-489X, Puchkov, D., Willmes, D.M., Wurmsee, S., Geisberger, S. ORCID: https://orcid.org/0000-0001-6477-1312, Dechend, R. ORCID: https://orcid.org/0000-0001-6636-3080, Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737, Kurth, T., Nguyen, G., Poy, M.N. ORCID: https://orcid.org/0000-0002-4904-2426, Solimena, M., Muller, D.N. ORCID: https://orcid.org/0000-0003-3650-5644 and Birkenfeld, A.L.
Proceedings of the National Academy of Sciences of the United States of America 116 (40): 19983-19988. 1 October 2019

Evaluation of a rare glucose-dependent insulinotropic polypeptide receptor variant in a patient with diabetes.
Jacobi, S.F. ORCID: https://orcid.org/0000-0002-4859-4093, Khajavi, N., Kleinau, G., Teumer, A., Scheerer, P., Homuth, G., Völzke, H., Wiegand, S., Kühnen, P. ORCID: https://orcid.org/0000-0003-0211-176X, Krude, H., Gong, M. ORCID: https://orcid.org/0000-0001-7384-3429, Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737 and Biebermann, H.
Diabetes Obesity and Metabolism 21 (5): 1168-1176. May 2019

HDAC4 mutations cause diabetes and induce β-cell FoxO1 nuclear exclusion.
Gong, M. ORCID: https://orcid.org/0000-0001-7384-3429, Yu, Y. ORCID: https://orcid.org/0000-0003-1928-2514, Liang, L., Vuralli, D., Froehler, S. ORCID: https://orcid.org/0000-0001-8000-2927, Kuehnen, P. ORCID: https://orcid.org/0000-0003-0211-176X, Du Bois, P., Zhang, J., Cao, A., Liu, Y., Hussain, K., Fielitz, J. ORCID: https://orcid.org/0000-0001-8522-1045, Jia, S. ORCID: https://orcid.org/0000-0001-8595-9314, Chen, W. ORCID: https://orcid.org/0000-0003-3263-1627 and Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737
Molecular Genetics & Genomic Medicine 7 (5): e602. May 2019

2017

Investigation of naturally occurring single-nucleotide variants in human TAAR1.
Muehlhaus, J., Dinter, J., Jyrch, S., Teumer, A., Jacobi, S.F., Homuth, G., Kuehnen, P. ORCID: https://orcid.org/0000-0003-0211-176X, Wiegand, S., Grueters, A., Voelzke, H., Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737, Kleinau, G., Krude, H. and Biebermann, H.
Frontiers in Pharmacology 8 : 807. 24 November 2017

2016

Diagnostik, Therapie und Verlaufskontrolle des Diabetes mellitus im Kindes- und Jugendalter - AWMF-Registernummer 057-016 [Diagnosis, therapy and follow-up of diabetes mellitus in children and adolescents - AWMF-Registry-Number 057-016].
Neu, A., Buerger-Buesing, J., Danne, T., Dost, A., Holder, M., Holl, R.W., Holterhus, P.M., Kapellen, T., Karges, B., Kordonouri, O., Mueller, S., Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737, Schweizer, R., von Sengbusch, S., Stachow, R., Wagner, V., Wiegand, S. and Ziegler, R.
Diabetologie und Stoffwechsel 11 (1): 35-94. 25 February 2016

2015

Treatment of young patients with HNF1A mutations (HNF1A-MODY).
Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737, Schober, E., Konrad, K., Thon, A., Grulich-Henn, J., Meissner, T., Woelfle, J., Scheuing, N. and Holl, R.W.
Diabetic Medicine 32 (4): 526-530. April 2015

2014

Occurrence of giant focal forms of congenital hyperinsulinism with incorrect visualization by (18)F DOPA-PET/CT scanning.
Kuehnen, P. ORCID: https://orcid.org/0000-0003-0211-176X, Matthae, R., Arya, V., Hauptmann, K., Rothe, K., Waechter, S., Singer, M., Mohnike, W., Eberhard, T., Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737, Lauffer, L.M., Iakoubov, R., Hussain, K. and Blankenstein, O.
Clinical Endocrinology 81 (6): 847-854. December 2014

Tracking of metabolic control from childhood to young adulthood in type 1 diabetes.
Hofer, S.E., Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737, Froehlich-Reiterer, E., Kapellen, T., Dost, A., Rosenbauer, J., Grulich-Henn, J. and Holl, R.W.
Journal of Pediatrics 165 (5): 956-961.e2. November 2014

Recessive mutations in PCBD1 cause a new type of early-onset diabetes.
Simaite, D., Kofent, J., Gong, M. ORCID: https://orcid.org/0000-0001-7384-3429, Rüschendorf, F. ORCID: https://orcid.org/0000-0001-5640-810X, Jia, S. ORCID: https://orcid.org/0000-0001-8595-9314, Arn, P., Bentler, K., Ellaway, C., Kühnen, P. ORCID: https://orcid.org/0000-0003-0211-176X, Hoffmann, G.F., Blau, N., Spagnoli, F.M. ORCID: https://orcid.org/0000-0001-7094-8188, Hübner, N. ORCID: https://orcid.org/0000-0002-1218-6223 and Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737
Diabetes 63 (10): 3557-3564. October 2014

Pulse pressure in children and adolescents with type 1 diabetes mellitus in Germany and Austria.
Dost, A., Molz, E., Krebs, A., Bechtold, S., Kapellen, T., Rohrer, T., Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737, Fritsch, M., Schwab, K.O. and Holl, R.
Pediatric Diabetes 15 (3): 236-243. May 2014

Meglitinide analogues in adolescent patients with HNF1A-MODY (MODY 3).
Becker, M., Galler, A. and Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737
Pediatrics 133 (3): e775-e779. 1 March 2014

Higher relative risk for multiple sclerosis in a pediatric and adolescent diabetes population: analysis from DPV data base.
Bechtold, S., Blaschek, A., Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737, Dost, A., Freiberg, C., Askenas, M., Froehlich-Reiterer, E., Molz, E. and Holl, R.W.
Diabetes Care 37 (1): 96-101. January 2014

2013

Predicting the optimal Basal insulin infusion pattern in children and adolescents on insulin pumps.
Holterhus, P.M., Bokelmann, J., Riepe, F., Heidtmann, B., Wagner, V., Rami-Merhar, B., Kapellen, T., Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737, Quester, W. and Holl, R.W.
Diabetes Care 36 (6): 1507-1511. June 2013

Two novel GATA6 mutations cause childhood-onset diabetes mellitus, pancreas malformation and congenital heart disease.
Gong, M. ORCID: https://orcid.org/0000-0001-7384-3429, Simaite, D., Kühnen, P. ORCID: https://orcid.org/0000-0003-0211-176X, Heldmann, M., Spagnoli, F. ORCID: https://orcid.org/0000-0001-7094-8188, Blankenstein, O., Hübner, N. ORCID: https://orcid.org/0000-0002-1218-6223, Hussain, K. and Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737
Hormone Research in Paediatrics 79 (4): 250-256. May 2013

2012

Long-term lanreotide treatment in six patients with congenital hyperinsulinism.
Kühnen, P. ORCID: https://orcid.org/0000-0003-0211-176X, Marquard, J., Ernert, A., Meissner, T., Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737, Wannenmacher, G. and Blankenstein, O.
Hormone Research in Paediatrics 78 (2): 106-112. September 2012

Natural course of untreated microalbuminuria in children and adolescents with type 1 diabetes and the importance of diabetes duration and immigrant status: longitudinal analysis from the prospective nationwide German and Austrian diabetes survey DPV.
Galler, A., Haberland, H., Naeke, A., Hofer, S., Holder, M., Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737 and Holl, R.W.
European Journal of Endocrinology 166 (3): 493-501. March 2012

Continuous glucose monitoring in children, adolescents, and adults with type 1 diabetes mellitus: analysis from the prospective DPV diabetes documentation and quality management system from Germany and Austria.
Ludwig-Seibold, C.U., Holder, M., Rami, B., Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737, Heidtmann, B. and Holl, R.W.
Pediatric Diabetes 13 (1): 12-14. February 2012

2011

Associations between media consumption habits, physical activity, socioeconomic status, and glycemic control in children, adolescents, and young adults with type 1 diabetes.
Galler, A., Lindau, M., Ernert, A., Thalemann, R. and Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737
Diabetes Care 34 (11): 2356-2359. November 2011

Diabetes caused by insulin gene (INS) deletion: clinical characteristics of homozygous and heterozygous individuals.
Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737, O'Connell, M., Galler, A., Werther, G., Kuehnen, P. ORCID: https://orcid.org/0000-0003-0211-176X, Krude, H. and Blankenstein, O.
European Journal of Endocrinology 165 (2): 255-260. August 2011

Diabetic retinopathy in type 1 diabetes-a contemporary analysis of 8,784 patients.
Hammes, H.P., Kerner, W., Hofer, S., Kordonouri, O., Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737 and Holl, R.W.
Diabetologia 54 (8): 1977-84. August 2011

Protein phosphatase 1 (PP-1)-dependent inhibition of insulin secretion by leptin in INS-1 pancreatic β-cells and human pancreatic islets.
Kuehnen, P. ORCID: https://orcid.org/0000-0003-0211-176X, Laubner, K., Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737, Schoefl, C., Jakob, F., Pilz, I., Paeth, G. and Seufert, J.
Endocrinology 152 (5): 1800-1808. May 2011

Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database.
Awa, W.L., Thon, A., Raile, K. ORCID: https://orcid.org/0000-0002-0842-1737, Grulich-Henn, J., Meissner, T., Schober, E. and Holl, R.W.
European Journal of Endocrinology 164 (4): 513-520. April 2011