research Bioengineered Skin Organoids: From Development to Applications
Scientists have improved 3D models of human skin for research and medical uses, but still face challenges in perfectly replicating real skin.
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90-120 / 1000+ results research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
research Robotic Hair Transplantation – Artificial Intelligence Plus Human Touch
Robotic hair transplantation with AI offers more reliable, precise, and efficient hair restoration.
research Disease Causing Homozygous Variants in the Human Hairless Gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
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 A Novel Homozygous Variant in the DSP Gene Underlies the First Case of Non-Syndromic Form of Alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Keratin 17-Related Recessive Atypical Pachyonychia Congenita with Variable Hair and Tooth Anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research CYP21A2 Mutations in Women with Polycystic Ovary Syndrome
Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
research Epstein-Barr Virus Associated with High-Grade B-Cell Lymphoma in Severe Combined Immunodeficiency
A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
research A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research STIM1 R304W in Mice Causes Subgingival Hair Growth and Increased Trabecular Bone Fraction
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Secretory Phospholipase A2-IIA Overexpressing Mice Exhibit Cyclic Alopecia Mediated Through Aberrant Hair Shaft Differentiation and Impaired Wound Healing Response
Mice with too much sPLA₂-IIA have hair loss and poor wound healing due to abnormal hair growth and stem cell depletion.
research Clinical and Genetic Findings in a Chinese Family with VDR-Associated Hereditary Vitamin D-Resistant Rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Genetic Variants in AR and SHBG and Resistance to Hormonal Castration in Prostate Cancer
Certain genetic variants increase the risk of resistance to hormone therapy in prostate cancer patients.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Hereditary Vitamin D-Resistant Rickets in Lebanese Patients: The p.R391S and p.H397P Variants Have Different Phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research A Novel Mutation in the FERMT1 Gene in a Spanish Family with Kindler’s Syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development
The PP2A-B55α protein is essential for brain and skin development in embryos.
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 Nuclear Factor I-C Regulates TGF-β-dependent Hair Follicle Cycling
Nuclear Factor I-C is important for controlling hair growth by affecting the TGF-β1 pathway.
research CYP21A2 Genotypes Do Not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research Severe Cutaneous Adverse Reactions to Drugs
Some drugs can cause rare but potentially deadly skin reactions, and early treatment and avoiding the drug again are key.