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research Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome
A man with KID syndrome developed a rare cancer in a long-term skin infection.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11
Two new gene clusters important for hair formation were found on human chromosome 11.
research Integrative Comparison of the Role of the PHOSPHATE RESPONSE1 Subfamily in Phosphate Signaling and Homeostasis in Rice
OsPHR3 can help breed rice that efficiently uses phosphate without growth issues.
research Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Generating Disulfides in Multicellular Organisms: Emerging Roles for a New Flavoprotein Family
QSOX enzymes help form protein bonds in cells, especially in tissues with high secretory activity.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research Central Centrifugal Cicatricial Alopecia Associated With PDL1 Loss and Increased Expression of Caspase 3: A Case Series
CCCA may involve the PD1/PDL1 pathway and increased caspase 3, leading to permanent hair loss.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research The ATP sensitive potassium channel (KATP) is a novel target for migraine drug development
Blocking the KATP channel may help treat migraines.
research P448: Identification of a novel RPS6KA3 variant in a female child with features of Coffin-Lowry syndrome: A case study
A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
research RETRACTED: Is photoshop with Qualitative Image Analysis a valid technique for measuring hair morphology? A test using wires of known dimensions
QIA-64 software can measure straight wire lengths accurately but needs improvement for curved wires and width measurements.
research Med Check
Horizant has risks like other seizure drugs, Johnson & Johnson misled about Risperdal, and Quanterix found a possible link between brain oxygen loss and Alzheimer's markers.
research Sodium Metabisulfite: Effects on Ionic Currents and Excitotoxicity
Sodium metabisulfite increases sodium channel activity, leading to higher cell excitability and potential damage.
research Identification and dissection of an enhancer controlling epithelial gene expression in skin
A specific DNA region controls skin cell gene expression by working with certain proteins.
research Triple Hormonal Blockade (ADT3): A Patient’s Perspective
Triple Hormonal Blockade (ADT3) can effectively manage prostate cancer but requires careful monitoring for heart risks.
research Calcineurin/Nfatc1 signaling links skin stem cell quiescence to hormonal signaling during pregnancy and lactation
Hormones during pregnancy and lactation keep skin stem cells inactive, preventing hair growth.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Overexpression of the calcium sensing receptor accelerates epidermal differentiation and permeability barrier formation in vivo
Increasing calcium sensing receptor speeds up skin and hair development in mice.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Genotypes of Single-nucleotide polymorphisms on DENND1A in an association with polycystic ovary syndrome among Saudi Arabian females
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Voltammetric detection with a comprehensive electrochemistry study of minoxidil using nuclear magnetic resonance and infrared analyses: Applications in the forensic and pharmaceutical fields
A new, quick method accurately detects minoxidil in drugs and cosmetics.
research Synthesis of 4-amidinoimidazoles incorporating a cyanamide moiety : novel precursors for biologically important purines
research The Influence of Portocaval Shunting on Inner Ear Structures
PCS rats show significant inner ear damage and zinc deficiency, similar to liver cirrhosis patients.
research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.