Related Experiment Video

Updated: Jun 20, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.7K

Nagashima-type palmoplantar keratosis patients harboring SERPINB7 and SERPINA12 variants

Xingyuan Jiang1,2, Chao Yang1, Huijun Wang1

  • 1Dermatology Hospital, Southern Medical University, Guangzhou, China.

The Journal of Dermatology
|July 22, 2024
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.1K
Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors
08:57

Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors

Published on: May 17, 2024

1.9K

Related Experiment Videos

Last Updated: Jun 20, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.7K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.1K
Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors
08:57

Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors

Published on: May 17, 2024

1.9K

Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

84.2K
Overview
84.2K
Pleiotropy01:33

Pleiotropy

40.4K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.4K

Articles linked to this work by shared authors, journal, and citation graph.

Mutation Analysis in Ten Cases With PNPLA1-Nonsyndromic Epidermal Differentiation Disorder: Evidence of a Founder Effect.

The Journal of dermatology·2026

Dermatopathological features and successful treatment with topical antioxidant for ichthyosiform lesions in Mitchell syndrome caused by an ACOX1 variant.

The Journal of dermatology·2024

Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder.

The British journal of dermatology·2023

Loss-of-function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosis.

Clinical genetics·2022

Investigation of Nagashima-type palmoplantar keratoderma in China: A cross-sectional study of 234 patients.

The Journal of dermatology·2022

Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.

Journal of the European Academy of Dermatology and Venereology : JEADV·2022

Three Cases of Merkel Cell Carcinoma Treated With Lutetium-177 Oxodotreotide.

The Journal of dermatology·2026

Local Low-Frequency Vibration Enhances Wound-Healing and Modulates Cellular Senescence in Tissues and Exudates in a Hyperglycemic Rat Model.

The Journal of dermatology·2026

Amenamevir Transfer into Breast Milk in Patients with Herpes Simplex Virus Infection: A Brief Report of a Prospective Multicenter Study.

The Journal of dermatology·2026

From Pustules to Pruritus: A Novel IL36RN Frameshift Variant Reveals a Triple Biologic Paradox and a Th17-To-Th2 Phenotypic Transition.

The Journal of dermatology·2026

Eosinophil-To-Lymphocyte Ratio and Neutrophil-To-Lymphocyte Ratio in Erythroderma: An Exploratory Subtype-Stratified Pilot Study.

The Journal of dermatology·2026

RETRACTION: Comparative Efficacy of Janus Kinase Inhibitors Indicated for Severe Alopecia Areata: A Bayesian Network Meta-Analysis and Matching-Adjusted Indirect Comparison.

The Journal of dermatology·2026
See all related articles
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies
Jove
Visualize
Contact Us