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research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Cloning and Expression of Cellular Retinoic Acid Binding Protein I Gene in Inner Mongolian Cashmere Goats
The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
research Bud fruitfulness assessment and pruning
Different tissues in cows have different types of cytokeratins.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
research Trichodysplasia spinulosa associated with chemotherapy for acute lymphocytic leukaemia
Two boys developed a viral skin infection during chemotherapy, which resolved with improved immune function.
research Calcified Epidermal Cyst on the Neck
Calcified epidermal cysts are rare, hard skin nodules that are best treated with surgical removal.
research The Fraser Complex Proteins (Frem1, Frem2, and Fras1) Can Form Anchoring Cords in the Absence of AMACO at the Dermal–Epidermal Junction of Mouse Skin
Certain skin proteins can form anchoring structures without the protein AMACO.
research 66-Year-Old Woman With Painless Vesicular Lesions
A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.
research Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.
research Cutaneous changes in hypothyroidism
Skin can become dry and thick in hypothyroidism.
research Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis
Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
research Multiple perifollicular fibromas: report of a case and analysis of the literature
Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Bubble hair and other acquired hair shaft anomalies due to hot ironing on wet hair
Using a hot iron on wet hair can cause dry, brittle hair with air bubbles inside.
research Pruritic Trichostasis Spinulosa: A Rare Variant
A rare hair follicle disorder can cause itchy, bluish-black bumps on the body.
research Generalized hair follicle hamartoma associated with alopecia and myasthenia gravis: report of a second case*
A possible link exists between hair follicle abnormalities, hair loss, and muscle weakness.
research Polycystic Ovary Syndrome (PCOS) Presenting with Delayed Menarche and Clitoromegaly
PCOS can cause unusual symptoms like late puberty and enlarged clitoris, making diagnosis difficult.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research Perspectives and Challenges of Hair Analysis
Hair is a complex organ, and understanding its detailed structure and growth phases is crucial for analyzing substances within it.
research [Skin-like structure generated from implantation of hair follicle bulb cells into collagen/chitosan porous scaffolds in vitro].
Hair bulb cells can create skin-like tissues for potential skin repair.
research ATP-dependent chromatin remodeling during mammalian development
ATP-dependent chromatin-remodeling complexes are crucial for gene regulation, cell differentiation, and organ development in mammals.
research Lipedematous Scalp Occurring in Two Female Siblings: Further Evidence for a Genetic Role
Lipedematous scalp may have a genetic link and could be associated with psychiatric conditions.
research Clouston syndrome associated with eccrine syringofibroadenoma
Clouston Syndrome can be linked to rare sweat gland tumors.
research Uncombable hair syndrome: A case presentation
Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
research Cutaneous Lymphadenoma Is a Distinct Trichoblastoma-like Lymphoepithelial Tumor With Diffuse Androgen Receptor Immunoreactivity, Notch1 Ligand in Reed-Sternberg–like Cells, and Common EGFR Somatic Mutations
Cutaneous Lymphadenoma is a unique skin tumor with specific protein markers and common gene mutations that may cause continuous cell growth.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Table 1_A partially automated method for DNA extraction from marmoset hair follicles to avoid blood chimerism.xlsx
Researchers created an efficient method to extract DNA from marmoset hair, avoiding blood chimerism.
research Human hair form. Morphology revealed by light and scanning electron microscopy and computer aided three-dimensional reconstruction.
Hair follicle shape determines hair type: curly, straight, or in-between.
research THE LOCALIZATION AND SIGNIFICANCE OF ARGININE AND CITRULLINE IN PROTEINS OF THE HAIR FOLLICLE
Arginine converts to citrulline in hair follicles as proteins harden.