Daniel G Calame Selected Research

Proteins (Proteins, Gene)

10/2023	PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
10/2021	Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.

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Daniel G Calame Research Topics

Disease

5	Neurodevelopmental Disorders 01/2024 - 02/2021
3	Infections 01/2017 - 11/2014
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2024
1	Osteoporosis 10/2023
1	Dystonia (Limb Dystonia) 01/2023
1	Intellectual Disability (Idiocy) 01/2023
1	Microphthalmos 01/2023
1	Neoplasms (Cancer) 01/2023
1	Angelman Syndrome (Syndrome, Angelman) 01/2023
1	Rare Diseases (Rare Disease) 01/2023
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 01/2022
1	Renal Insufficiency (Renal Failure) 01/2022
1	Osteomyelitis 01/2022
1	Glioma (Gliomas) 01/2022
1	Type IIB Hereditary Sensory And Autonomic Neuropathy 01/2022
1	Wieacker syndrome 01/2022
1	Hyperhidrosis 01/2022
1	Autoimmune limbic encephalitis 01/2022
1	Urinary Incontinence 01/2022
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2022
1	Emery-Dreifuss Muscular Dystrophy (Scapuloperoneal Muscular Dystrophy) 10/2021
1	Arthrogryposis 06/2021
1	familial type 2 Hemiplegic migraine 03/2021
1	Leukoencephalopathies 02/2021
1	Pelizaeus-Merzbacher Disease 02/2021
1	Epilepsy (Aura) 01/2021
1	Status Epilepticus (Complex Partial Status Epilepticus) 01/2021
1	Bites and Stings (Sting) 01/2017
1	Lung Injury 03/2010
1	Acute Lung Injury 03/2010
1	Body Weight (Weight, Body) 03/2010

Drug/Important Bio-Agent (IBA)

2	Proteins (Proteins, Gene)FDA Link 10/2023 - 10/2021
1	DNA (Deoxyribonucleic Acid)IBA 01/2024
1	RNA (Ribonucleic Acid)IBA 01/2024
1	Bicarbonates (Hydrogen Carbonate)IBA 12/2023
1	Chloride-Bicarbonate AntiportersIBA 12/2023
1	SodiumIBA 12/2023
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 01/2023
1	retinoic acid receptor betaIBA 01/2023
1	CationsIBA 01/2023
1	Dichlorodiphenyl Dichloroethylene (DDE)IBA 01/2023
1	Ligases (Synthetase)IBA 01/2023
1	RNA Helicases (RNA Helicase)IBA 01/2023
1	UbiquitinIBA 01/2023
1	Leucine (L-Leucine)FDA Link 01/2022
1	anti-leucine-rich glioma-inactivated 1 autoantibodyIBA 01/2022
1	muskIBA 01/2022
1	emerinIBA 10/2021
1	Troponin T (Troponin T1)IBA 06/2021
1	Adenosine Triphosphatases (ATPase)IBA 03/2021
1	NucleotidesIBA 02/2021
1	Levetiracetam (Keppra)FDA LinkGeneric 01/2021
1	p38 Mitogen-Activated Protein KinasesIBA 01/2017
1	cyclic diadenosine phosphateIBA 01/2017
1	CytokinesIBA 01/2017
1	Complement System Proteins (Complement)IBA 12/2016
1	AnaphylatoxinsIBA 11/2014
1	CollagenIBA 03/2010
1	Bleomycin (Blenoxane)FDA LinkGeneric 03/2010

Therapy/Procedure

1	Therapeutics 01/2024
1	Surgical Amputation (Amputations) 01/2022
1	Transplantation 03/2010