Christopher J Cardinale Selected Research

Ichthyosis follicularis atrichia photophobia syndrome

1/2022

A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.

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Christopher J Cardinale Research Topics

Disease

2	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 06/2020 - 01/2016
2	Autoimmune Diseases (Autoimmune Disease) 10/2015 - 09/2015
1	And Kidney Dysplasia-Hypoplasia Cleft Palate-Cryptorchidism Ear-Eye Anomalies Hirschsprung Disease Skeletal Malformations Ectodermal Dysplasia Retardation Brain Anomalies 01/2022
1	Ichthyosis follicularis atrichia photophobia syndrome 01/2022
1	Acquired Immunodeficiency Syndrome (AIDS) 10/2015
1	Hypersensitivity (Allergy) 09/2015
1	Infections 10/2003

Drug/Important Bio-Agent (IBA)

1	Peptide Hydrolases (Proteases)FDA Link 01/2022
1	Transcription Factors (Transcription Factor)IBA 01/2022
1	SterolsIBA 01/2022
1	Janus Kinase 2IBA 06/2020
1	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 01/2016
1	InterleukinsIBA 09/2015
1	Proteins (Proteins, Gene)FDA Link 09/2015
1	InterferonsIBA 09/2015
1	Deoxyribonucleases (DNase)FDA Link 09/2015
1	MicroRNAs (MicroRNA)IBA 09/2015
1	AntigensIBA 10/2003

Therapy/Procedure

1	Therapeutics 10/2015