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Case of Epidermolytic Ichthyosis with a Novel L157P Mutation in KRT10 Complicated by Hypercalcemia

research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia

October 2011 in “Journal of dermatology”

A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.

research A conditional multi-trait sequence GWAS discovers pleiotropic candidate genes and variants for sheep wool, skin wrinkle and breech cover traits

11 citations , July 2021 in “Genetics selection evolution”

Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.

research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation

February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology”

A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.

research Laminin 332 Is Indispensable for Homeostatic Epidermal Differentiation Programs

12 citations , May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology”

Laminin 332 is essential for normal skin cell behavior and structure.

research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family

April 2024 in “Anais Brasileiros de Dermatologia”

research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene

50 citations , February 2004 in “Genomics”

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

research MOESM1 of A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse

January 2017

research Formation of the cornified envelope

3 citations , September 2005 in “Experimental dermatology”

The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.

research Protein Kinase C Epsilon Signals Ultraviolet Light-induced Cutaneous Damage and Development of Squamous Cell Carcinoma Possibly Through Induction of Specific Cytokines in a Paracrine Mechanism¶

28 citations , January 2005 in “Photochemistry and Photobiology”

Protein kinase C epsilon may increase skin cancer risk by affecting nearby cells.

research Human stratum corneum proteomics reveals cross‐linking of a broad spectrum of proteins in cornified envelopes

44 citations , March 2019 in “Experimental Dermatology”

A wide range of proteins are integrated into the skin's protective layer.

research Protein Kinase C Epsilon Signals Ultraviolet Light‐induced Cutaneous Damage and Development of Squamous Cell Carcinoma Possibly Through Induction of Specific Cytokines in a Paracrine Mechanism^¶

3 citations , January 2005 in “Photochemistry and Photobiology”

Protein kinase C epsilon may promote skin cancer development after UV exposure by affecting nearby cells.

research BMP4 and nuclear laminC orchestrate a expression of AHF/Trichohyalin molecule, a key modulator of keratin intermediate filaments in the hair follicle

January 2007

research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders

March 2026 in “Experimental Dermatology”

The new model helps understand and develop treatments for genetic skin disorders like AEC.

research The Krüppel-like Factor Epiprofin Is Expressed by Epithelium of Developing Teeth, Hair Follicles, and Limb Buds and Promotes Cell Proliferation

88 citations , December 2003 in “Journal of Biological Chemistry”

Epiprofin helps cells grow in developing teeth, hair, and limbs.

Escin Activates Canonical Wnt/Beta-Catenin Signaling Pathway by Facilitating the Proteasomal Degradation of Glycogen Synthase Kinase-3 Beta in Cultured Human Dermal Papilla Cells

research Escin Activates Canonical Wnt/β-Catenin Signaling Pathway by Facilitating the Proteasomal Degradation of Glycogen Synthase Kinase-3β in Cultured Human Dermal Papilla Cells

July 2023 in “Current Issues in Molecular Biology”

Escin may help treat hair loss by boosting a specific cell growth pathway.

research Identification of differentially expressed genes affecting hair and cashmere growth in the Laiwu black goat by microarray

4 citations , September 2016 in “Molecular Medicine Reports”

Specific genes influence hair and cashmere growth in Laiwu black goats.

research The HOXC13-controlled expression of early hair keratin genes in the human hair follicle does not involve TALE proteins MEIS and PREP as cofactors

18 citations , November 2005 in “Archives of Dermatological Research”

research 178 Neutrophil elastase is critical in linear IgA bullous dermatosis in mice

April 2023 in “Journal of Investigative Dermatology”

CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss.

research Low‐level laser activates Wnt/β‐catenin signaling pathway‐promoting hair follicle stem cell regeneration and wound healing: Upregulate the expression of key downstream gene Lef 1

2 citations , June 2024 in “Skin Research and Technology”

Low-level laser therapy can boost hair growth and speed up wound healing.

research Overexpression of the calcium sensing receptor accelerates epidermal differentiation and permeability barrier formation in vivo

46 citations , May 2003 in “Mechanisms of Development”

Increasing calcium sensing receptor speeds up skin and hair development in mice.

research Protein kinase C is a key target for attenuation of Leigh syndrome by rapamycin

5 citations , February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)”

Rapamycin may help treat Leigh syndrome by targeting protein kinase C.

research Differential Expression of Genes Encoding a Cysteine-Rich Keratin Family in the Hair Cuticle

35 citations , September 1994 in “Journal of Investigative Dermatology”

research KRT17: A Key Driver of Cancer Therapy Resistance and Emerging Therapeutic Target

November 2025 in “Cancer Management and Research”

Targeting Keratin 17 may help overcome cancer therapy resistance.

research Deletion of the epidermis derived laminin γ1 chain leads to defects in the regulation of late hair morphogenesis

19 citations , May 2016 in “Matrix Biology”

Deleting a specific protein in skin cells disrupts normal hair growth and development.

research Manipulation of stem cell proliferation and lineage commitment:visualisation of label-retaining cells in wholemounts of mouse epidermis

421 citations , September 2003 in “Development”

Stem cell behavior varies with stimuli, and lineage changes can happen without affecting stem cell division.

research Dermal EZH2 simultaneously orchestrates dermal differentiation and epidermal proliferation during murine skin development

November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

Dermal EZH2 controls skin cell growth and differentiation in mice.

Functional Mapping of the Mouse Hairless Gene Promoter Region

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