Area of research
Cell Biology · Cognitive Neuroscience
Research interest
Research interests include Skin and Cellular Biology Research, Motor Control and Adaptation, Electromagnetic Launch and Propulsion Technology, and Dermatological and Skeletal Disorders.
Loss-of-function variants in EPHX3 cause nonsyndromic epidermal differentiation disorders.
Gain-of-function variants in IRF6 cause hidradenitis suppurativa, ectodermal dysplasia and deafness syndrome.
A recurrent variant in two patients with EMP2-nonsyndromic epidermal differentiation disorder.
Thalidomide-based regimen shows promising efficacy in large granular lymphocytic leukemia: a multicenter phase II study
Variants in KLF4 affecting residue Asp441 cause an autosomal dominant syndromic ichthyosis.
Clinical mechanisms of repetitive transcranial magnetic stimulation in improving constipation in Parkinson’s disease patients through the gut-brain axis
Gain-of-function variant in NNT causes premature diffuse familial sebaceous hyperplasia.
Study on rTMS’s therapeutic effect on constipation in Parkinson’s disease via the brain-gut axis theory
Improvement in palmoplantar keratoderma-congenital alopecia type 2 treated with topical simvastatin-cholesterol ointment.
A loss-of-function variant in KLF4 affecting zinc finger motifs causes progressive symmetric erythrokeratodermia.
Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation.
A gain-of-function variant in SREBF1 causes generalized skin hyperpigmentation with congenital cataracts.
Study of electronic biofeedback combined with nursing intervention in the treatment of vascular cognitive impairment-no dementia
Progressive hyperpigmentation and lentigines due to KIT variants improving with imatinib.
Luteolin blocks the ROS/PI3K/AKT pathway to inhibit mesothelial-mesenchymal transition and reduce abdominal adhesions
Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder.
A Two-stage Method with a Shared 3D U-Net for Left Atrial Segmentation of Late Gadolinium-Enhanced MRI Images
A patient with familial Flegel disease caused by a novel splicing variant in SPTLC1.
PLACK syndrome caused by novel pathogenic variants in CAST: a case report and literature review.
A novel CLDN1 variant identified in a case of ILVASC with sparse curly hair.
Postzygotic gain-of-function variants in FGFR2 in two patients with hair follicle naevus.
A novel KRT16 frameshift variant causing pachyonychia congenita by re-initiation of translation.
Identification of the underlying gene for Flegel disease: another 'two-hit' genodermatosis?
Single-cell atlas of keratoconus corneas revealed aberrant transcriptional signatures and implicated mechanical stretch as a trigger for keratoconus pathogenesis
Genomic and transcriptomic profiling reveals distinct molecular subsets associated with outcomes in mantle cell lymphoma
DOAJ (DOAJ: Directory of Open Access Journals) 2022cited by 72position: middle
BET inhibitor JQ1 enhances anti-tumor immunity and synergizes with PD-1 blockade in CRC
Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2.
Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.
A stepwise approach for the management of primary erythromelalgia: A prospective single-arm study.
Incompletely penetrant TRPM4-associated progressive symmetric erythrokeratodermia responses to methotrexate.