Silvia Ciancia Selected Research

mitochondrial RNA-processing endoribonuclease (RNAse MRP)

2/2021

Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings.

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Silvia Ciancia Research Topics

Disease

2	Adrenal Insufficiency (Adrenal Gland Hypofunction) 09/2023 - 01/2019
2	Osteoporosis 02/2023 - 07/2022
1	Pain (Aches) 02/2023
1	Gender Dysphoria 11/2022
1	Chronic Disease (Chronic Diseases) 07/2022
1	Cartilage-hair hypoplasia 02/2021
1	Hyperplasia 01/2021
1	Hypothyroidism 01/2021
1	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 04/2020
1	Leukocytosis (Pleocytosis) 01/2020
1	Juvenile Arthritis (Juvenile Idiopathic Arthritis) 01/2020
1	Hypoaldosteronism (Hyporeninemic Hypoaldosteronism) 01/2019
1	Addison Disease (Addison's Disease) 01/2019
1	Familial Hypoadrenocorticism 01/2019

Drug/Important Bio-Agent (IBA)

2	Hydrocortisone (Cortisol)FDA LinkGeneric 09/2023 - 01/2019
2	Adrenocorticotropic Hormone (ACTH)FDA Link 09/2023 - 01/2019
1	Bone Density Conservation AgentsIBA 02/2023
1	Diphosphonates (Bisphosphonates)IBA 02/2023
1	Hormones (Hormone)IBA 11/2022
1	SteroidsIBA 07/2022
1	mitochondrial RNA-processing endoribonuclease (RNAse MRP)IBA 02/2021
1	Thyroxine (Levothyroxine)FDA LinkGeneric 01/2021
1	Growth Hormone (Somatotropin)IBA 01/2021
1	Endocrine DisruptorsIBA 04/2020
1	Interleukin 1 Receptor Antagonist Protein (Anakinra)FDA Link 01/2020
1	DNA (Deoxyribonucleic Acid)IBA 01/2020
1	Proteins (Proteins, Gene)FDA Link 01/2019
1	ElectrolytesIBA 01/2019
1	FludrocortisoneIBA 01/2019
1	Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA 01/2019

Therapy/Procedure

2	Therapeutics 02/2023 - 01/2019
1	Puberty Suppression 11/2022