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Publications by Jihong Xiao

Familial Chilblain Lupus Due to a Novel Mutation in TREX1 Associated With Aicardi–Goutie’res Syndrome

Pediatric Rheumatology

English

Related publications

Clinical Heterogeneity Among a Three-Generation Japanese Family With D18N TREX1 Mutation for Aicardi-Goutières Syndrome / Familial Chilblain Lupus

Pediatric Rheumatology

English

Familial Chilblain Lupus Caused by an Activating Mutation in STING

Pediatric Rheumatology

English

A Novel Α-Tropomyosin Mutation (D55N) Associated With Familial Dilated Cardiomyopathy Increases Tropomyosin Binding to Actin

Biophysical Journal

English

Autoimmune Thyroid Disease Is Associated With a Diagnosis of Secondary Sjogren's Syndrome in Familial Systemic Lupus

Annals of the Rheumatic Diseases

Molecular Biology

English

A Novel ROGDI Gene Mutation Is Associated With Kohlschutter-Tonz Syndrome

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

Nuclear Medicine

Forensic Medicine

English

Whole‑exome Sequencing Identifies a Novel Mutation (R367G) in SCN5A to Be Associated With Familial Cardiac Conduction Disease

Molecular Medicine Reports

Molecular Biology

Cancer Research

Molecular Medicine

English

Familial Scaphocephaly Syndrome Caused by a Novel Mutation in the FGFR2 Tyrosine Kinase Domain

Journal of Medical Genetics

English

Reversible Splenial Lesion Syndrome (RESLES) Due to Acute Intermittent Porphyria With a Novel Mutation in the Hydroxymethylbilane Synthase Gene

Orphanet Journal of Rare Diseases

English

Cutting Edge: cGAS Is Required for Lethal Autoimmune Disease in the Trex1-Deficient Mouse Model of Aicardi–Goutières Syndrome

Journal of Immunology

English