research Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
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150-180 / 1000+ results research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research Two Siblings With a Novel Nonsense Mutation, p.R50X, in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis
Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Structure of Human Type II 5 Alpha-Reductase Gene
The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
research Structure of Human Type II 5 Alpha-Reductase Gene
The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
research Mutations in the Vitamin D Receptor Gene in Four Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Lack of cystatin M/E causes thin hair and dry skin.
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.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
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 Stabilizing Mutations of KLHL24 Ubiquitin Ligase Cause Loss of Keratin 14 and Human Skin Fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and Is Associated with Androgenic Alopecia
A specific gene change in APCDD1 increases the risk of hair loss.
research Anti-Androgenic Potential of the Fruit Extracts of Certain Egyptian Sabal Species and Their Genetic Variability Studies: A Metabolomic-Molecular Modeling Approach
Certain Egyptian Sabal fruit extracts may help treat anti-androgenic diseases like benign prostatic hyperplasia.
research Investigation of Paraoxonase Enzyme Polymorphism in Patients with Alopecia Areata
There is no significant link between alopecia areata and the PON1 enzyme polymorphisms studied.
research Irreversible And Severe Alopecia Following Docetaxel Or Paclitaxel Cytotoxic Therapy For Breast Cancer
Docetaxel and paclitaxel for breast cancer can cause permanent, severe hair loss.
research Targeted Disruption of Stat3 Reveals a Major Role for Follicular Stem Cells in Skin Tumor Initiation
Disrupting Stat3 in hair follicle stem cells greatly reduces skin tumor formation.
research Androgen Receptor Gene CAG Repeat Polymorphism in Women with Polycystic Ovary Syndrome
Longer CAG repeat lengths in the androgen receptor gene are linked to higher testosterone levels in women with PCOS.
research Fate of Prominin-1 Expressing Dermal Papilla Cells During Homeostasis, Wound Healing, and Wnt Activation
Prominin-1 expressing cells in the dermal papilla help regulate hair follicle size and communication but don't aid in skin repair.
research Targeted Therapy in Melanoma
New treatments for advanced skin cancer are improving patient outcomes, but drug resistance and finding the right treatment combinations are still big challenges.
research Analysis of Genetic Polymorphisms of Steroid 5α-Reductase Type 1 and 2 Genes in Korean Men with Androgenetic Alopecia
Gene differences may affect baldness treatment response in Korean men.
research Progranulin, A Secreted Tumorigenesis And Dementia-Related Factor, Regulates Mouse Hair Growth
Progranulin overexpression leads to shorter, thinner hair and increased cell death in mouse hair follicles.
research Identification of a Novel Heterozygous Mutation in the First Japanese Case of Marie Unna Hereditary Hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research Repigmentation of Leukoderma in a Piebald Patient Associated with a Novel c-KIT Gene Mutation, G592E, of the Tyrosine Kinase Domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome
Netherton Syndrome can cause severe skin lesions in rare cases.
research Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Nuclear Topology, Epigenetics, and Keratinocyte Differentiation
Nuclear shape and chromatin changes affect gene expression in skin cell differentiation.
research Expression and Function of FGF5 Isoform in Hair Growth
Different forms of FGF5 either promote or inhibit hair growth.