Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

181 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ. Jansen JC, et al. Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28. Am J Hum Genet. 2016. PMID: 26833332 Free PMC article.
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ. Jansen JC, et al. Am J Hum Genet. 2016 Feb 4;98(2):322-30. doi: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28. Am J Hum Genet. 2016. PMID: 26833330 Free PMC article.
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.
Cannata Serio M, Graham LA, Ashikov A, Larsen LE, Raymond K, Timal S, Le Meur G, Ryan M, Czarnowska E, Jansen JC, He M, Ficicioglu C, Pichurin P, Hasadsri L, Minassian B, Rugierri A, Kalimo H, Ríos-Ocampo WA, Gilissen C, Rodenburg R, Jonker JW, Holleboom AG, Morava E, Veltman JA, Socha P, Stevens TH, Simons M, Lefeber DJ. Cannata Serio M, et al. Among authors: jansen jc. Hepatology. 2020 Dec;72(6):1968-1986. doi: 10.1002/hep.31218. Hepatology. 2020. PMID: 32145091 Free PMC article.
Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115.
Larsen LE, van den Boogert MAW, Rios-Ocampo WA, Jansen JC, Conlon D, Chong PLE, Levels JHM, Eilers RE, Sachdev VV, Zelcer N, Raabe T, He M, Hand NJ, Drenth JPH, Rader DJ, Stroes ESG, Lefeber DJ, Jonker JW, Holleboom AG. Larsen LE, et al. Among authors: jansen jc. Cell Mol Gastroenterol Hepatol. 2022;13(2):583-597. doi: 10.1016/j.jcmgh.2021.09.013. Epub 2021 Oct 7. Cell Mol Gastroenterol Hepatol. 2022. PMID: 34626841 Free PMC article.
NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects.
Jansen JC, Wolthuis D, Van Scherpenzeel M, Ratziu V, Drenth JPH, Lefeber DJ. Jansen JC, et al. Cell Mol Gastroenterol Hepatol. 2018 Jan 18;5(3):415-417.e1. doi: 10.1016/j.jcmgh.2017.12.011. eCollection 2018 Mar. Cell Mol Gastroenterol Hepatol. 2018. PMID: 29675453 Free PMC article. No abstract available.
Postoperative Radiotherapy for pT1- and pT2-Classified Squamous Cell Carcinoma of the External Auditory Canal.
Nabuurs CH, Kievit W, Leemans CRR, Smit CFGM, van den Brekel MWM, Pauw RJ, van der Laan BFAM, Jansen JC, Lacko M, Braunius WW, Dai C, Shi X, Danesi G, Bouček J, Borsetto D, Gowrishankar S, Kania R, Jourdaine C, Jansen TTG, Derks J, Dijkema T, Takes RP, Kunst HDPM. Nabuurs CH, et al. Among authors: jansen jc. Cancers (Basel). 2024 Nov 30;16(23):4026. doi: 10.3390/cancers16234026. Cancers (Basel). 2024. PMID: 39682212 Free PMC article.
Eagle syndrome: tissue characteristics and structure of the styloid process.
de Ruiter RD, Treurniet S, Bravenboer N, Busse B, Hendrickx JJ, Jansen JC, Dubois L, Schreuder WH, Micha D, Teunissen BP, Raijmakers PGHM, Eekhoff EMW, von Brackel FN. de Ruiter RD, et al. Among authors: jansen jc. JBMR Plus. 2024 Aug 29;8(10):ziae115. doi: 10.1093/jbmrpl/ziae115. eCollection 2024 Oct. JBMR Plus. 2024. PMID: 39347481 Free PMC article.
BioMOF@PAN Mixed Matrix Membranes as Fast and Efficient Adsorbing Materials for Multiple Heavy Metals' Removal.
Escamilla P, Monteleone M, Percoco RM, Mastropietro TF, Longo M, Esposito E, Fuoco A, Jansen JC, Elliani R, Tagarelli A, Ferrando-Soria J, Amendola V, Pardo E, Armentano D. Escamilla P, et al. Among authors: jansen jc. ACS Appl Mater Interfaces. 2024 Sep 25;16(38):51182-51194. doi: 10.1021/acsami.4c12363. Epub 2024 Sep 13. ACS Appl Mater Interfaces. 2024. PMID: 39269435
181 results