research From molecular biology to therapeutics
The document discusses various skin disorders and new therapeutic approaches.
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research Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Human hair production by scalp samples grafted onto nude mice. Biochemical data on normal human hair and the genetic defect trichothiodystrophy
Grafted human scalp samples on mice can produce human hair, useful for studying hair genetics.
research Revisiting the significance of keratin expression in complex epithelia
Keratin gene expression helps understand different types of skin cells and their development, and should be used carefully as biological markers.
research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Environmental factors can cause mutations in skin proteins, leading to skin disorders.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Hypotrichosis and Hair Loss on the Occipital Scalp
A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
research 591 Chromatin architectural protein CTCF regulates terminal keratinocyte differentiation in the developing epidermis and hair follicles
CTCF protein is essential for skin and hair follicle development in mice.
research Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
research 839 Spatiotemporal antagonism in mesenchymal-epithelial Signaling in sweat versus hair fate decision
Sweat glands and hair follicles are determined by opposing signals, with BMPs promoting sweat glands and blocking BMPs leading to hair follicles.
research 837 From genotoxic stresses to skin damage: Distinct, novel mechanisms of skin and hair damage in chemo/radiation therapy
Chemotherapy and radiation therapy cause skin and hair damage by altering gene expression and signaling pathways.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Progress on hair follicle stem cells
Hair follicle stem cells are crucial for hair growth and renewal.
research Steatocystoma Multiplex
Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research Hoxc13 and the development of hair follicle
Hoxc13 is essential for hair growth and follicle development.
research Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient
The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Early Dengue Virus Infection in Human Skin: A Cycle of Inflammation and Infectivity
Chicken feather gene mutation helps understand human hair disorders.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Atrichia with Papular Lesions: Dermoscopy to the Rescue
Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.