Epidermal disease: faulty keratin filaments take their toll

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

Nature genetics·2001

Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.

Human genetics·2000

Mutation screening using automated bidirectional dideoxy fingerprinting.

BioTechniques·2000

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

Human genetics·1998

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.

Nature genetics·1998

A highly conserved lysine residue on the head domain of type II keratins is essential for the attachment of keratin intermediate filaments to the cornified cell envelope through isopeptide crosslinking by transglutaminases.

Proceedings of the National Academy of Sciences of the United States of America·1998

Genome-wide association analyses highlight the neuronal contribution to multiple sclerosis susceptibility.

Nature genetics·2026

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Nature genetics·2026

Scalable, generalizable and uncertainty-aware integration of spatial multiomics across diverse modalities and platforms with SCIGMA.

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Spatiotemporal lineage tracing reveals the dynamic spatial architecture of tumor growth and metastasis.

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Nature genetics·2026

Mechanisms and functional implications of long-range enhancer-dependent gene regulation.

Nature genetics·2026

Global trends and evidence on dyslipidemia in ischemic stroke: An integrative scientometric and meta-analytic review.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University·2026

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Region and phase-specific diffusion tensor imaging dynamics in Japanese encephalitis: A linear mixed-effects analysis.

The neuroradiology journal·2026

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Pathogens and global health·2026

Trends in Osteoporotic Humerus Fractures and Refractures, and Mortality Rates: Analysis of NHIS Claims Data From 2006-2022.

Journal of Korean medical science·2026

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Epidermal disease: faulty keratin filaments take their toll

Related Concept Videos

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.

Mutation screening using automated bidirectional dideoxy fingerprinting.

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.

A highly conserved lysine residue on the head domain of type II keratins is essential for the attachment of keratin intermediate filaments to the cornified cell envelope through isopeptide crosslinking by transglutaminases.

Genome-wide association analyses highlight the neuronal contribution to multiple sclerosis susceptibility.

Multiancestry genome-wide association and multiomics analyses elucidate spatiocellular features of multiple sclerosis genetics.

Scalable, generalizable and uncertainty-aware integration of spatial multiomics across diverse modalities and platforms with SCIGMA.

Spatiotemporal lineage tracing reveals the dynamic spatial architecture of tumor growth and metastasis.

A single-cell atlas of multiple myeloma defines malignant archetypes and proliferative states.

Mechanisms and functional implications of long-range enhancer-dependent gene regulation.

Global trends and evidence on dyslipidemia in ischemic stroke: An integrative scientometric and meta-analytic review.

Long-Term Mortality in Diabetic Foot Disease is Higher Than That of Overall Cancer: Results From Three International Cohorts.

Region and phase-specific diffusion tensor imaging dynamics in Japanese encephalitis: A linear mixed-effects analysis.

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Epidermal disease: faulty keratin filaments take their toll

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