research Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
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research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
Certain genetic variants in keratins increase the risk of tooth decay.
research Traumatic panniculitis with localized hypertrichosis: Two new cases and considerations
Traumatic panniculitis can cause increased hair growth in affected areas.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research The Tabby (Ta), Tabby-c (Tac), and Tabby-J (TaJ) Mutations, Chromosome X
Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
research Skin manifestations amongGATA2-deficient patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research Porokeratotic eccrine ostial and dermal duct nevus: A noteworthy presentation
PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Overexpression of cotton Trihelix transcription factor GhGT-3b_A04 enhances resistance to Verticillium dahliae and affects plant growth in Arabidopsis thaliana
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene
Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
research Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Lentiginosis within plaques of linear atrophoderma of Moulin: a twin-spotting phenomenon?
The document suggests a rare skin condition might be caused by a genetic phenomenon.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research Generalized Congenital Hypotrichosis in a Female Rottweiler
A female Rottweiler had a rare genetic condition causing mostly hairless skin.
research Unilateral Beau's Lines Associatd with a Fingertip Crushing Injury
A man's crushed thumb caused unusual horizontal nail ridges on all fingers of one hand.
research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
research Pax9 is required for filiform papilla development and suppresses skin-specific differentiation of the mammalian tongue epithelium
Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
research The Fate of Trichohyalin
Trichohyalin is modified by enzymes to form strong structures in hair cells.
research Circle Hairs in a Patient with Multiple Myeloma
An elderly woman with cancer improved after treatment for a rare skin condition with coiled hairs.
research Unleashing the Furry Beast: Exploring the Fascinating World of Hypertrichosis Lanuginosa
Hypertrichosis lanuginosa causes excessive fine hair growth, often linked to genetics or cancer, with limited treatment options.
research Linear trichoepithelioma on the neck of a 15-year-old girl
A 15-year-old girl has a benign skin tumor on her neck.
research Pathologic Quiz Case: Unexplained Hair Loss—1 Boy, 2 Cats, and 1 Dog
The boy had trichotillomania, causing hair loss, and treatment focused on habit reversal and support.
research Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochondral bone formation.
Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research Abstracts from the 55th European Society of Human Genetics (ESHG) 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 Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.