research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
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research Pseudopelade of Brocq
Pseudopelade of Brocq is a unique hair loss condition, but its cause and development are still not fully understood.
research K6irs1, K6irs2, K6irs3, and K6irs4 Represent the Inner-Root-Sheath-Specific Type II Epithelial Keratins of the Human Hair Follicle1
Four specific keratins in hair follicles help understand hair structure and function.
research 265 Modulation of disease-central cytokine pathways with TAK-279, a highly selective oral tyrosine kinase 2 (TYK2) inhibitor, defines clinical response in patients with psoriasis
TAK-279 effectively reduces psoriasis symptoms and is safe.
research Exploring the Dermoscopic Patterns in Tuberous Sclerosis
Dermoscopy can help diagnose tuberous sclerosis by identifying unique skin patterns.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain
The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
research Observation of different HHK groups with SEM
Different human hair keratin types have unique structures that affect how they dissolve and can be used to create self-tendons.
research 689 Cell-type-specific nascent transcriptomics through PRECISE-seq reveal molecular principles of tissue dynamics
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research Effect of the Polymorphisms of Keratin Associated Protein 8.2 Gene on Fibre Traits in Inner Mongolia Cashmere Goats
KAP8.2 gene variations affect cashmere quality in goats.
research Crusted plaques of the scalp after deep brain stimulation surgery
The patient's scalp plaques were caused by impetigo and successfully treated with antibiotics.
research Reply
AUC and APL are distinct conditions needing careful clinical assessment.
research Selective Ablation of Ctip2/Bcl11b in Epidermal Keratinocytes Triggers Atopic Dermatitis-Like Skin Inflammatory Responses in Adult Mice
Removing Ctip2 in skin cells causes skin inflammation similar to atopic dermatitis.
research Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
research Introduction to this second series of Biometals webinars, The biology of mammalian multi-copper ferroxidases, Arsenic antibiotics: old and new
Some bacteria use arsenic compounds as antibiotics, and others have evolved resistance; a particular arsenic-based compound shows potential as a new antimalarial treatment.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Abnormalities of Purkinje Cell Arborization in Brindled Mouse Cerebellum
Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
research YAP and TAZ are essential for basal and squamous cell carcinoma initiation
YAP and TAZ proteins are necessary for the development of two types of skin cancer.
research Pulmonary arterial aneurysm in Behçet's disease
People with Behçet's disease can develop life-threatening lung artery aneurysms that may require surgery.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research 277 HPV8 E6 induced STAT3 activation leads to hair follicle junctional zone keratinocyte stem cell proliferation and expansion in actinic keratoses
HPV8 causes hair follicle stem cells to grow, leading to skin lesions.
research JAK-centric explainable few-shot gene-expression diagnosis framework for alopecia via MultiPLIER priors and relation-style set-to-set comparison
A new method helps diagnose alopecia areata using specific gene markers and could guide targeted treatments.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Zebrafish Model of Hereditary Pigmentary Disorders
Zebrafish help understand genetic causes of skin pigment disorders like albinism.
research Immunohistochemical Pattern of CD34 Distribution in Different Types of Basal Cell Carcinoma and in Peritumoral Skin
CD34 is absent in most basal cell carcinoma cells but present in surrounding skin.
research 653 Substance P ameliorates epidermal thickness, basal cell density, and asymmetric stem cell self-renewal in skin with decreased sensory innervation
Substance P helps restore skin thickness and cell renewal when sensory nerves are reduced.
research Structural features and sites of expression of a new murine 65 kD and 48 kD hair-related keratin pair, associated with a special type of parakeratotic epithelial differentiation
A new pair of mouse keratins, 65 kD and 48 kD, are found in specific skin areas and are linked to a unique skin differentiation type.