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Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility

Journal of dermatological science, 2018-02, Vol.89 (2), p.198-201

2018

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Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1

Journal of dermatological science, 2016-11, Vol.84 (2), p.210-212

2016

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Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis

Journal of investigative dermatology, 2020-06, Vol.140 (6), p.1285-1288

2020

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Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3

Journal of investigative dermatology, 2017-05, Vol.137 (5), p.1176-1179

2017

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Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

American journal of human genetics, 2017-02, Vol.100 (2), p.364-370

2017

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Recurrent KRT10 Variant in Ichthyosis with Confetti

Acta dermato-venereologica, 2020-07, Vol.100 (14), p.adv00209-adv00209

2020

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Lichen planus and lichenoid dermatoses: Clinical overview and molecular basis

Journal of the American Academy of Dermatology, 2018-11, Vol.79 (5), p.789-804

2018

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Candidate Genetic and Molecular Drivers of Dysregulated Adaptive Immune Responses After Traumatic Brain Injury

Journal of neurotrauma, 2024-01, Vol.41 (1-2), p.3-12

2024

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KLK11 ichthyosis: large truncal hyperkeratotic pigmented plaques underscore a distinct autosomal dominant disorder of cornification

British journal of dermatology (1951), 2023-07, Vol.189 (1), p.134-136

2023

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Loss of RhoE Function in Dermatofibroma Promotes Disorganized Dermal Fibroblast Extracellular Matrix and Increased Integrin Activation

Journal of investigative dermatology, 2023-08, Vol.143 (8), p.1487-1497.e9

2023

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Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects

British journal of dermatology (1951), 2023-01, Vol.188 (1), p.75-83

2023

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Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex

Journal of investigative dermatology, 2017-06, Vol.137 (6), p.1378-1380

2017

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Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

Journal of investigative dermatology, 2017-11, Vol.137 (11), p.2344-2353

2017

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Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation

Frontiers in immunology, 2022-01, Vol.12, p.737747-737747

2022

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Lichen planus and lichenoid dermatoses: Conventional and emerging therapeutic strategies

Journal of the American Academy of Dermatology, 2018-11, Vol.79 (5), p.807-818

2018

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Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas

Journal of investigative dermatology, 2020-03, Vol.140 (3), p.624-635.e7

2020

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Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica

Journal of investigative dermatology, 2019-12, Vol.139 (12), p.2550-2554.e9

2019

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Lichen planus and lichenoid dermatoses

Journal of the American Academy of Dermatology, 2018-11, Vol.79 (5), p.789-804

2018

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Lichen planus and lichenoid dermatoses

Journal of the American Academy of Dermatology, 2018-11, Vol.79 (5), p.807-818

2018

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Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45

American journal of medical genetics. Part A, 2017-11, Vol.173 (11), p.3109-3113

2017

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Advances in the genetic understanding of hypohidrotic ectodermal dysplasia

Expert opinion on orphan drugs, 2017-12, Vol.5 (12), p.967-975

2017

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Major tanshinones of Danshen ( Salvia miltiorrhiza) exhibit different modes of inhibition on human CYP1A2, CYP2C9, CYP2E1 and CYP3A4 activities in vitro

Phytomedicine (Stuttgart), 2010-09, Vol.17 (11), p.868-875

2010

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Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Infectivity by Viral Load, S Gene Variants and Demographic Factors, and the Utility of Lateral Flow Devices to Prevent Transmission

Clinical infectious diseases, 2022-02, Vol.74 (3), p.407-415

2022

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Reactive oxygen species-mediated kinase activation by dihydrotanshinone in tanshinones-induced apoptosis in HepG2 cells

Cancer letters, 2009-11, Vol.285 (1), p.46-57

2009

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A strong ferroelectric ferromagnet created by means of spin-lattice coupling

Nature (London), 2010-08, Vol.466 (7309), p.954-958

2010

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Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility

Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1

Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis

Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

Recurrent KRT10 Variant in Ichthyosis with Confetti

Lichen planus and lichenoid dermatoses: Clinical overview and molecular basis

Candidate Genetic and Molecular Drivers of Dysregulated Adaptive Immune Responses After Traumatic Brain Injury

KLK11 ichthyosis: large truncal hyperkeratotic pigmented plaques underscore a distinct autosomal dominant disorder of cornification

Loss of RhoE Function in Dermatofibroma Promotes Disorganized Dermal Fibroblast Extracellular Matrix and Increased Integrin Activation

Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation

Lichen planus and lichenoid dermatoses: Conventional and emerging therapeutic strategies

Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas

Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica

Lichen planus and lichenoid dermatoses

Lichen planus and lichenoid dermatoses

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45

Advances in the genetic understanding of hypohidrotic ectodermal dysplasia

Major tanshinones of Danshen ( Salvia miltiorrhiza) exhibit different modes of inhibition on human CYP1A2, CYP2C9, CYP2E1 and CYP3A4 activities in vitro

Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Infectivity by Viral Load, S Gene Variants and Demographic Factors, and the Utility of Lateral Flow Devices to Prevent Transmission

Reactive oxygen species-mediated kinase activation by dihydrotanshinone in tanshinones-induced apoptosis in HepG2 cells

A strong ferroelectric ferromagnet created by means of spin-lattice coupling

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