research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
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research Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report
A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
research W locus alleles of the KIT Gene in Turkish Van Cats and Their Association with Certain Phenotypes
Turkish Van cats' genotypes don't affect traits like eye color or hair length.
research LB789 Novel IFNγ aptamer TAGX-0003 protected hair follicles from immune privilege collapse and reversed Alopecia Areata like phenotype in humanized mouse model
TAGX-0003 protected hair follicles and reversed alopecia areata in a mouse model.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research TU55. EXPLORING THE GENOMIC RELATIONSHIP BETWEEN TWO MAJOR DETERMINANT PHENOTYPES OF PSYCHIATRIC DISORDERS: HUMAN GUT MICROBIOME AND SLEEP TRAITS
The research explores how gut bacteria and sleep patterns are related in mental health disorders.
research Discovery of clinically approved drugs capable of inhibiting SARS-CoV-2 in vitro infection using a phenotypic screening strategy and network-analysis to predict their potential to treat covid-19
Four drugs were found that could potentially treat COVID-19 by inhibiting the virus in lab tests.
research The Fate of Epidermal Tight Junctions in the stratum corneum: Their Involvement in the Regulation of Desquamation and Phenotypic Expression of Certain Skin Conditions
Tight junctions help control skin shedding and may be targets for treating certain skin conditions.
research 1272 p21Waf1/Cip1 is differentially expressed in epidermal versus follicular melanocytes and melanoma cells and is phenotypically regulated by UVB-mediated apoptosis
The protein p21 is more abundant in normal skin cells than in melanoma cells and may help protect against melanoma, with UVB light affecting its levels.
research Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype
Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
research A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Early onset androgenic alopecia: not a cosmetic problem but a sign of life time risk factors. Male phenotypic equivalent of polycystic ovarian syndrome: Is There a Male Phenotype of PCOS
Early hair loss in men may signal broader health issues similar to PCOS in women.
research Novel 5α-Reductase Inhibitors: Synthesis, Structure−Activity Studies, and Pharmacokinetic Profile of Phenoxybenzoylphenyl Acetic Acids
A brominated phenoxy compound effectively inhibits a human enzyme and shows potential for clinical use.
research The immunology of the porcine skin and its value as a model for human skin
Porcine skin is very similar to human skin, making it a useful model for research.
research Weakly supervised learning of biomedical information extraction from curated data
The method can effectively extract biomedical information without needing expert annotation, performing better than previous models.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Obesity and the skin
Obesity is linked to various skin problems and may increase the risk of skin cancer.
research Human Wharton’s Jelly Mesenchymal Stem Cells Plasticity Augments Scar-Free Skin Wound Healing with Hair Growth
Wharton’s Jelly stem cells from the umbilical cord improve skin healing and hair growth without scarring.
research Macrophages in Skin Wounds: Functions and Therapeutic Potential
Targeting macrophages may improve wound healing.
research The slick hair coat locus maps to chromosome 20 in Senepol-derived cattle
The gene for slick hair in Senepol cattle is located on chromosome 20 and may involve the SRD5A2 gene.
research Care of the newborn with ichthyosis
Newborns with ichthyosis need specific care based on their skin type.
research Biomaterial-based mechanical regulation facilitates scarless wound healing with functional skin appendage regeneration
Biomaterials can help heal wounds without scars and regenerate skin features.
research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Curly bare (cub), a new mouse mutation on chromosome 11 causing skin and hair abnormalities, and a modifier gene (mcub) on chromosome 5
A new mouse mutation causes skin and hair issues, influenced by another gene.
research The pressing need for standardization in epidemiologic studies of PCOS across the globe
The article concludes that global standardization in PCOS research is crucial for accurate diagnosis and understanding of the condition.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research White piedra caused by Trichosporon inkin : a report of two cases in a northern climate
White piedra, a rare fungal infection, was diagnosed in two women in a northern climate.
research Dermal papilla cells and melanocytes response to physiological oxygen levels depends on their interactions
Low oxygen levels improve the function of hair and skin cells when they are in direct contact.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.