A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16: Disease severity assessment using AlphaMissense technology

Related Experiment Video

Updated: Jun 16, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.0K

Tatsuhiro Noda1, Takuya Takeichi1,2, Kana Tanahashi1

  • 1Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.

The Journal of Dermatology
|July 4, 2024
PubMed
Abstract

No abstract available in PubMed .

Keywords:
genotype–phenotype correlationmissensenailpalmoplantar keratodermasubstitution

More Related Videos

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
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

25.8K

Related Experiment Videos

Last Updated: Jun 16, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.0K
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
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

25.8K

Related Concept Videos

Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

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

Extramammary Paget's Disease With Bilateral Sentinel Lymph Node Biopsy: a Multicenter Study of Lymphatic Patterns and Outcomes.

Clinical and experimental dermatology·2026

PLA2G2F/lysoplasmalogen axis links epidermal lipid metabolism to type 2 inflammation and itch in atopic dermatitis.

Frontiers in immunology·2026

Multicenter Clinical Comparison Between Anti-NXP2 and Anti-TIF1-γ Antibody-Positive Myositis, and Analysis of the Clinical Significance of Anti-NXP2 Antibody Titers in Idiopathic Inflammatory Myopathies.

The Journal of dermatology·2026

Keratotic macules and plaques with mild erythema in deficiency of interleukin 36 receptor antagonist cases with monoallelic pathogenic variants of IL36RN.

Nagoya journal of medical science·2026

Darier disease-A review highlighting new insights from the Darier Disease International Task Force.

Journal of the European Academy of Dermatology and Venereology : JEADV·2026

Three-Year Follow-Up of the PACI Randomized Controlled Trial (PACI-ON): Effects of Early Intervention for Atopic Dermatitis on Atopic March.

Allergy·2026

Risk of Cataract and Its Association With Phototherapy Among Patients With Psoriasis.

The Journal of dermatology·2026

Hypogammaglobulinemia and Infection After Rituximab in Pemphigus, With Divergent Desmoglein Antibody and Immunoglobulin Kinetics: A Retrospective Cohort Study.

The Journal of dermatology·2026

Ten-Year Longitudinal Changes in Nailfold Videocapillaroscopy Findings and Clinical Features in Systemic Sclerosis.

The Journal of dermatology·2026

Secukinumab for Refractory Psoriasiform Cutaneous Manifestations in CTSC-Syndromic Epidermal Differentiation Disorder: A Pediatric Case Report.

The Journal of dermatology·2026

Immune Responses Associated With Nephritis-Associated Plasmin Receptor in IgA Vasculitis.

The Journal of dermatology·2026

Treatment Satisfaction and Patterns Among Primary Hyperhidrosis Patients.

The Journal of dermatology·2026

Biobank analysis of canine eye disease variants identifies new breed associations and a potential X-linked Retinoschisin 1 disease model.

G3 (Bethesda, Md.)·2026

Whole-Exome Sequencing Identifies a Rare CSRP3 Variant Associated With Familial Brugada Syndrome in a Lebanese Family.

Journal of cardiovascular electrophysiology·2026

Genetic Variants Associated with Ventricular Septal Defect in Malaysia: A Scoping Review of Current Evidence and Research Gaps.

Pediatric cardiology·2026

Genetic Insights into the Potential Causal Role of LIPA and LTA4H in Vitiligo: A Single-Cell Integrative Analysis.

Clinical, cosmetic and investigational dermatology·2026

Genome-wide selection signatures in Ramlıç sheep identified by complementary ROH and iHS analyses.

Frontiers in veterinary science·2026

Promoter variation in BraHDAC1 modulates stomatal regulation and thermotolerance in Brassica rapa.

The Plant cell·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