research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
Search
for
Sort by
Research
30 / 37 results 
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research Clouston’s Syndrome: A Rare Case Report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research Botanical Extract Combined with Minoxidil Improves Hidrotic Ectodermal Dysplasia Caused by p.G11R Mutations: A Case Report
Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Congenital Hair Loss Disorders: Rare, But Not Too Rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Painful Thickened Skin on the Soles of the Feet
The man has a genetic skin condition called pachyonychia congenita.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research A New Locus for Hereditary Hypotrichosis Simplex Maps to Chromosome 13q12.12-12.3 in a Chinese Family
A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Transcriptome Analyses of Reprogrammed Feather/Scale Chimeric Explants Revealed Co-Expressed Epithelial Gene Networks During Organ Specification
Key genes can rewire networks, changing skin appendage types.
research Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
research To Grow or Not to Grow: Hair Morphogenesis and Human Genetic Hair Disorders
Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
research Genetic Analysis of a Novel Antioxidant Multi-Target Iron Chelator, M30, Protecting Against Chemotherapy-Induced Alopecia in Mice
M30 is a promising treatment for preventing hair loss during chemotherapy.
research Identification of Ectodysplasin Target Genes Reveals the Involvement of Chemokines in Hair Development
Chemokine signaling is important for hair development.
research Genetic Hair and Nail Disorders
Recent progress has been made in understanding inherited hair and nail disorders.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Formation of the Cornified Envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research An Integrated Transcriptome Atlas of Embryonic Hair Follicle Progenitors, Their Niche, and the Developing Skin
The study identified unique genes in hair follicle cells and their environment, suggesting these genes help organize cells for hair growth.
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 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 Transcriptome Profiling of Pilosebaceous Units in Male Androgenetic Alopecia Reveals Altered Junctional Networks
Hair loss in male pattern baldness is linked to changes in specific genes and proteins that affect hair growth and scalp health.
research Defining the Cellular Environment in the Organ of Corti Following Extensive Hair Cell Loss: A Basis for Future Sensory Cell Replacement in the Cochlea
The conclusion is that genetic differences affect how the cochlea heals after hair cell loss, which may challenge the creation of hearing loss treatments.
research Involvement of Wnt, Eda, and Shh at Defined Stages of Sweat Gland Development
Wnt, Eda, and Shh pathways are crucial for different stages of sweat gland development in mice.
research AP-2α/AP-2β Transcription Factors Are Key Regulators of Epidermal Homeostasis
AP-2α and AP-2β proteins are essential for healthy adult skin and hair.