Johanna M Rommens Selected Research

Shwachman-Diamond Syndrome

10/2015	Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes.
8/2012	Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules.
10/2009	Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.
5/2005	The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism.
8/2002	Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome.

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Johanna M Rommens Research Topics

Disease

14	Cystic Fibrosis (Mucoviscidosis) 01/2022 - 07/2010
5	Shwachman-Diamond Syndrome 10/2015 - 08/2002
4	Lung Diseases (Lung Disease) 04/2022 - 02/2015
2	Meconium Ileus 01/2019 - 04/2016
2	Pancreatic Diseases (Pancreatic Disease) 05/2015 - 06/2014
2	Quebec platelet disorder 02/2010 - 02/2009
1	Insulin Resistance 01/2020
1	Type 2 Diabetes Mellitus (MODY) 01/2020
1	Neutropenia 10/2015
1	Pancreatitis 07/2010
1	Bone Marrow Failure Disorders 04/2010
1	Hemorrhage 02/2010
1	Methylmalonic acidemia with homocystinuria 01/2006

Drug/Important Bio-Agent (IBA)

5	Biomarkers (Surrogate Marker)IBA 11/2021 - 06/2014
5	Cystic Fibrosis Transmembrane Conductance Regulator (Protein, CFTR)IBA 01/2021 - 10/2013
4	Proteins (Proteins, Gene)FDA Link 10/2015 - 05/2005
2	TrypsinogenIBA 05/2015 - 06/2014
2	Plasminogen Activators (Plasminogen Activator)IBA 02/2010 - 02/2009
2	Urokinase-Type Plasminogen Activator (Urokinase)FDA Link 02/2010 - 02/2009
1	Amyloid (Amyloid Fibrils)IBA 01/2020
1	P-2 (P 2)IBA 01/2019
1	ChloridesIBA 12/2016
1	Transcription Factors (Transcription Factor)IBA 10/2015
1	CCAAT-Enhancer-Binding ProteinsIBA 10/2015
1	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 02/2015
1	A-factor (Streptomyces)IBA 08/2012
1	Complement System Proteins (Complement)IBA 05/2012
1	Amylases FDA Link 07/2010
1	IsoamylaseIBA 07/2010
1	DiamondIBA 04/2010
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2006
1	RNA (Ribonucleic Acid)IBA 05/2005
1	EnzymesIBA 08/2002

Therapy/Procedure

4	Therapeutics 04/2022 - 10/2016
2	Precision Medicine 01/2019 - 10/2016