Publications by authors named "Ana Krolo"

12Publications

Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis.

J Clin Immunol 2020 Oct 6. Epub 2020 Oct 6.

Faculty of Medicine, Division of Pediatric Allergy/Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-020-00878-4DOI Listing
October 2020

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

Gastroenterology 2018 07 29;155(1):130-143.e15. Epub 2018 Mar 29.

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria; St. Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, Austria. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1053/j.gastro.2018.03.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6058035PMC
July 2018

CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.

N Engl J Med 2017 07 28;377(1):52-61. Epub 2017 Jun 28.

From the Section of Molecular Development of the Immune System, Laboratory of Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.), National Institutes of Health, Bethesda, MD; the Department of Pediatrics, Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and Nutrition, İstanbul University Cerrahpaşa Faculty of Medicine (Ö.F.B., T.E.), Istanbul, and the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of Medicine, Başkent University (F.O., Z.B., M.G.), and the Pediatric Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.), the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, University Medical Center (H.L.L.), Utrecht, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1615887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6690356PMC
July 2017

VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.

Nucleic Acids Res 2017 07;45(W1):W567-W572

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, 1090 Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/nar/gkx425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570181PMC
July 2017

Expanding the Interactome of the Noncanonical NF-κB Signaling Pathway.

J Proteome Res 2016 09 1;15(9):2900-2909. Epub 2016 Aug 1.

CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, 1090 Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1021/acs.jproteome.5b01004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295629PMC
September 2016

Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency.

J Clin Immunol 2015 Aug 2;35(6):523-6. Epub 2015 Aug 2.

Pediatric Allergy and Immunology, Marmara University Pendik Training and Research Hospital, Mimar Sinan Cad. No: 41, 34890, Istanbul, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-015-0178-9DOI Listing
August 2015

Cholesterol-depletion corrects APP and BACE1 misstrafficking in NPC1-deficient cells.

Biochim Biophys Acta 2012 Aug 19;1822(8):1270-83. Epub 2012 Apr 19.

Division of Molecular Medicine, Rudjer Boskovic Institute, Bijenicka 54, 10000 Zagreb, Croatia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2012.04.002DOI Listing
August 2012