research Cardiac Outflow tract septation defects in a DiGeorge syndrome model respond to Minoxidil treatment.
Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
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480-510 / 1000+ results research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research 851 The role of astrotactin2 in regulating mammalian skin polarity
Astrotactin2 affects hair follicle orientation and skin cell polarity.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research P5 Assembly of hair keratins in thansfected cultured cells
research STITCH: Augmented Dexterity for Suture Throws Including Thread Coordination and Handoffs
STITCH improves suture accuracy and efficiency, especially with human help.
research Spatial transcriptomics reveals asymmetric cellular responses to injury in the regenerating spiny mouse (Acomys) ear
The spiny mouse regenerates ear tissue asymmetrically, with gene expression differences possibly explaining its unique healing abilities.
research Combined AlloDerm® and thin skin grafting for the treatment of postburn dyspigmented scar contracture of the upper extremity
Technique effectively treats deformities, achieves re-pigmentation, and releases scar contractures.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Two Dogs with Juvenile-Onset Skin Diseases with Involvement of Extremities
The analyses helped identify different skin diseases in the two dogs.
research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research Synaptic processes and immune-related pathways implicated in Tourette syndrome
The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
research Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: A quantitative analysis by Raman microspectroscopy
TTD hair is brittle due to fewer sulfur amino acids and unstable disulfide bonds.
research Salivary gland function in persons with ectodermal dysplasias
People with ectodermal dysplasias often have reduced saliva production and should get saliva tests.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
research Transient bullous dermolysis of the newborn
The newborn's skin blisters healed without scarring, leaving some light spots, and stopped forming after four months.
research Cthrc1 deficiency aggravates wound healing and promotes cardiac rupture after myocardial infarction via non-canonical WNT5A signaling pathway
CTHRC1 is essential for healing and preventing heart rupture after a heart attack.
research Incomplete Sjögren-Larsson Syndrome in Two Japanese Siblings?
research Differential structural properties and expression patterns suggest functional significance for multiple mouse desmoglein 1 isoforms
Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research A Novel Marker of Tissue Junctions, Collagen XXII
Collagen XXII is a marker for tissue junctions, aiding in structural integrity and found in muscles, heart, skin, and arthritic joints.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research Loose Anagen Syndrome
Loose anagen syndrome causes easy hair shedding in children, often resolving on its own.
research Hair thread tourniquet syndrome in a male infant: a rare surgical emergency
A baby boy's toe was saved from damage caused by hair strangulation by quick surgical treatment.
research Regulation of masculinization: androgen signalling for external genitalia development
Male genital development is driven by androgen signaling and understanding it could help address congenital anomalies.