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Diabetes, ISSN 0012-1797, 06/2019, Volume 68, Issue Supplement 1, p. 25
Peptidylglycine α-amidating monooxygenase (PAM) catalyses the amidation of glycine-extended peptides, thereby maximising their biological potency. We recently... 
Neonates | Diabetes mellitus | Caspase | MAP kinase | Glycine | Caspase-3 | Monooxygenase | Proteins | Alleles | Peptidylglycine monooxygenase | Diabetes | Diabetes mellitus (non-insulin dependent) | Endoplasmic reticulum | Apoptosis
Journal Article
Human Reproduction, ISSN 0268-1161, 05/2019, Volume 34, Issue 5, pp. 863 - 871
Abstract STUDY QUESTION What is the peripubertal outcome of recombinant human FSH (r-hFSH) treatment during minipuberty in boys with congenital... 
CHH | combined pituitary hormone deficiency | testosterone | FSH | micropenis | infant | Original | inhibin b
Journal Article
by Knip, Mikael and Åkerblom, Hans K and Altaji, Eva and Becker, Dorothy and Bruining, Jan and Castano, Luis and Danne, Thomas and De Beaufort, Carine and Dosch, Hans-Michael and Dupre, John and Fraser, William D and Howard, Neville and Ilonen, Jorma and Konrad, Daniel and Kordonouri, Olga and Krischer, Jeffrey P and Lawson, Margaret L and Ludvigsson, Johnny and Madacsy, Laszlo and Mahon, Jeffrey L and Ormisson, Anne and Palmer, Jerry P and Pozzilli, Paolo and Savilahti, Erkki and Serrano-Rios, Manuel and Songini, Marco and Taback, Shayne and Vaarala, Outi and White, Neil H and Virtanen, Suvi M and Wasikowa, Renata and Mandrup-Poulsen, Thomas and Arjas, Elja and Lernmark, Åke and Läärä, Esa and Schmidt, Barbara and Hyytinen, Mila and Koski, Katriina and Koski, Matti and Merentie, Kristiina and Pajakkala, Eeva and Reunanen, Antti and Salonen, Marja and Terhonen, Tuija and Virkkunen, Seija and Cuthbertson, David and Gainer, Bruce and Hadley, David and Malloy, Jamie and Nallamshetty, Lavanya and Shanker, Linda and Bradley, Brenda and Lough, Gigi and Fraser, William and Sermer, Mathew and Taback, Shayne and Franciscus, Margaret and Nucci, Anita and Palmer, Jerry and Alahuhta, Kirsi and Bärlund, Sonja and Korhonen, Tuuli and Kovanen, Lea and Lehtonen, Eveliina and Niinistö, Sari and Pekkala, Minna and Sorkio, Susa and Toivanen, Liisa and Vähätalo, Liisa and Uusitalo, Ulla and Öhman, Taina and Bongiorno, Ros and Catteau, Jacki and Fraser, Glenda and Lloyd, Margaret and Crock, Patricia and Giles, Michelle and Siech, Krystyna and See, Denise Wong and Brown, Christina and Craig, Maria and Johnston, Amanda and Bere, Lynda J and Clarson, Cheril L and Jenner, Morris and McManus, Ruth and Renato, Natale and Lovell, Marge and Higo, Debbie and Kent, Nancy and Kwan, Jennifer and Marshall, Colleen and Metzger, Daniel and Chanoine, Jean-Pierre and Stewart, Laura and Thompson, David and Edwards, Alun and Lange, Ian and Mercer, Julia and Pacaud, Daniele and ... and TRIGR Study Group and Writing Group for the TRIGR Study Group and Medicinska fakulteten and Region Östergötland and Barn- och ungdomskliniken i Linköping and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Barn- och kvinnocentrum and Avdelningen för barns och kvinnors hälsa
JAMA - Journal of the American Medical Association, ISSN 0098-7484, 01/2018, Volume 319, Issue 1, pp. 38 - 48
Journal Article
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 04/2019, Volume 61, Issue 4, pp. 451 - 457
Children with persistent congenital hyperinsulinism showed deficits in attention, memory, visual, and sensorimotor functions. The deficits were potentially of... 
DIAGNOSIS | TERM-FOLLOW-UP | RISK | PEDIATRICS | INFANCY | CLINICAL NEUROLOGY
Journal Article
Journal Article
eLife, ISSN 2050-084X, 11/2018, Volume 7
Insulin gene mutations are a leading cause of neonatal diabetes. They can lead to proinsulin misfolding and its retention in endoplasmic reticulum (ER). This... 
Insulin gene mutations | stem cells | beta-cell development | CRISPR-Cas9 | regenerative medicine | induced pluripotent stem cells | human | mTORC1 | endoplasmic reticulum stress | IN-VITRO | UNFOLDED PROTEIN RESPONSE | ER STRESS | BIOLOGY | GENE-EXPRESSION | MUTANT PROINSULIN | GENERATION | ENDOPLASMIC-RETICULUM STRESS | DYSFUNCTION | PANCREATIC PROGENITORS | REVEALS | Diabetes Mellitus - pathology | Proinsulin - chemistry | Diabetes Mellitus - genetics | Induced Pluripotent Stem Cells - chemistry | Humans | Apoptosis - genetics | Male | Endoplasmic Reticulum Stress - genetics | Insulin-Secreting Cells - chemistry | Cell Differentiation - genetics | Insulin-Secreting Cells - metabolism | Female | Single-Cell Analysis | Infant, Newborn | Induced Pluripotent Stem Cells - metabolism | Cell Proliferation - genetics | Endoplasmic Reticulum - genetics | Signal Transduction | Proinsulin - genetics | CRISPR-Cas Systems - genetics | Protein Folding | Animals | Sequence Analysis, RNA | Mice | Mutation | Pancreatic beta cells | Genetic aspects | Gene mutations | Health aspects | Stem cells | Diabetes in children | Cell proliferation | Neonates | Flow cytometry | Stem cell transplantation | Biosynthesis | Glucose | Experiments | Cell growth | CRISPR | Medical research | Secretion | Diabetes mellitus | Ribonucleic acid--RNA | Insulin | Beta cells | Hospitals | Software | Diabetes | Cell size | Electron transport | Endoplasmic reticulum | Pluripotency | Apoptosis | Inhibitory postsynaptic potentials | Index Medicus
Journal Article