Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant

Autor: Gonul Catli, Wen Gao, Corinne Foley, Berk Özyilmaz, Neslihan Edeer, Gulden Diniz, Monique Losekoot, Jaap van Doorn, Andrew Dauber, Bumin N. Dundar, Jan M. Wit, Vivian Hwa

STAT5B deficiency, a rare autosomal recessive disorder characterized by severe growth hormone insensitivity (GHI) and immunodeficiency, can manifest as fatal pulmonary complications. We describe atypical STAT5B deficiency associated with a novel homo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d50b5b18d1ef6de0654caf7d12303ec
https://hdl.handle.net/11454/79578

Hurdles in treating Hurler disease: potential routes to achieve a 'real' cure

Autor: Peter M. van Hasselt, Jaap van Doorn, Caroline A. Lindemans, Brigitte T.A. van den Broek, Nanda M. Verhoeven-Duif, Jaap Jan Boelens, Charlotte V. Hegeman, Stefan Nierkens

Publikováno v: Blood Adv

Mucopolysaccharidoses (MPSs) are multiorgan devastating diseases for which hematopoietic cell transplantation (HCT) and, to a lesser extent, enzyme replacement therapy have substantially altered the course of the disease. Furthermore, they have resul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86df17ba05e90df45e0695a33b59b395
https://pubmed.ncbi.nlm.nih.gov/32574368

Current Insights into the Role of the Growth Hormone-Insulin-Like Growth Factor System in Short Children Born Small for Gestational Age

Autor: Anita Hokken-Koelega, Judith S. Renes, Jaap van Doorn

Publikováno v: Hormone Research in Paediatrics, 92:WOS:000507287500002, 15-27. Karger
Hormone Research in Paediatrics, 92(1), 15. S. Karger AG

Background: The reason for the insufficient catch-up growth seen in 10% of children born small for gestational age (SGA) is poorly understood. Disturbances in the growth hormone (GH) – insulin-like growth factor (IGF) axis might underlie this failu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e1c28293a54503ba168e21d7ff20a86
https://pure.eur.nl/en/publications/283b9b7b-db07-446f-b271-ee2cb16738be

Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations

Autor: Jaap van Doorn, Huseyin Demirbilek, Sitha A. Scheltinga, Monique Losekoot, Jan M. Wit, Emregul Isik, Belma Haliloglu

Publikováno v: European Journal of Endocrinology, 176(6), 657. BioScientifica Ltd.
European Journal of Endocrinology, 176(6), 657-667

Objective Acid-labile subunit (ALS) deficiency (ACLSD), caused by homozygous or compound heterozygous IGFALS mutations, is associated with moderate short stature, delayed puberty, low serum IGF-I and ALS and extremely low serum IGFBP-3. Its effect on

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8e829d975f943c9f013509b26d0ccb9
https://hdl.handle.net/1887/115956

‘Big’-Insulin-Like Growth Factor–II Signaling Is an Autocrine Survival Pathway in Gastrointestinal Stromal Tumors

Autor: Winette T. A. van der Graaf, Coby Meijer, Gert Jan Meersma, Ed Schuuring, Jaap van Doorn, Bart Rikhof, Steven de Jong, Albert J. H. Suurmeijer, Patricia J. T. A. Groenen

Publikováno v: American Journal of Pathology, 181, 303-12
American Journal of Pathology, 181, 1, pp. 303-12
American Journal of Pathology, 181(1), 303-312. ELSEVIER SCIENCE INC

Contains fulltext : 109924.pdf (Publisher’s version ) (Closed access) New treatment targets need to be identified in gastrointestinal stromal tumors (GISTs) to extend the treatment options for patients experiencing failure with small-molecule tyros

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1669bc39b1fe3a784f5ad0d2433149e4
https://doi.org/10.1016/j.ajpath.2012.03.028