research iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice
A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
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research Insertional mutation of the hairless locus on mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research 1422 Uncoupling desmosomal cadherin adhesion activates quiescent hair follicle stem cells and orchestrates self-organized regeneration through outside-in signaling
Disrupting a specific protein's function in hair follicle stem cells triggers their activation and a self-healing process.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Halo Scalp Ring: An Annular Alopecia Associated with Birth Injury
A hairless patch on a boy's scalp from birth injury improved with minoxidil treatment.
research Mixed Group
Dissecting cellulitis and folliculitis keloidalis cause intense inflammation without bacterial infection.
research Newly born mesenchymal cells disperse through a rapid mechanosensitive migration
Newly born mesenchymal cells quickly spread out in response to tissue tension during early development.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)].
A hereditary condition causes hair loss and twisted hair in some family members.
research Trichilemmal Cysts With Divergent Ductal Differentiation: A Series of 4 Cases
Sweat duct differentiation in trichilemmal cysts is very rare and can be successfully removed with surgery.
research Three-dimensional modelling of interchain sequence similarities and differences in the coiled-coil segments of keratin intermediate filament heterodimers highlight features important in assembly
Keratin heterodimers are preferred for their specific and structural advantages.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
research Dermoscopic features of discoid lupus erythematosus
Dermoscopy is useful for diagnosing and monitoring discoid lupus erythematosus by showing specific skin patterns.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Dissecting Cellulitis of the Scalp
Dissecting cellulitis of the scalp is a condition that causes inflammation and scarring on the scalp, mainly affecting African-American men, and can lead to permanent hair loss.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research ЭВОЛЮЦИЯ И ПЕРЕЛОМЫ ДИСТАЛЬНОГО ЭПИФИЗА ЛУЧЕВОЙ КОСТИ
The distal radius evolved to adapt and function despite potential fractures.
research Lanceolate hair-J (lahJ ): A mouse model for human hair disorders
The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
A mutation in the KRTHB5 gene causes hair and nail issues.
research Dramatic Response of Scarring Scalp Discoid Lupus Erythematosus (DLE) to Intravenous Methylprednisolone, Oral Corticosteroids, and Hydroxychloroquine in a 5-Year-Old Child
A 5-year-old girl's scalp scarring and hair loss from lupus improved with specific medications.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.