research A case report and brief literature review of Klippel-Trénaunay syndrome
The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
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research 785 Single-cell transcriptomic profile of EGFR-deficient epidermal compartments during folliculitis
EGFR deficiency causes significant changes in skin cells and hair follicles.
research Inborn errors of biotin metabolism
Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
research Frontal fibrosing alopecia: a review of eleven patients
Most treatments for Frontal Fibrosing Alopecia are ineffective, but early anti-inflammatory therapy may help and the condition may stabilize over time.
research Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations
Disrupting β-catenin signaling in certain cells causes anorectal malformations.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Foxn1 in Skin Development, Homeostasis and Wound Healing
Foxn1 is crucial for skin development and healing, and altering its expression may aid regenerative medicine.
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research Essential Fatty Acid Deficiency (EFAD) in a Patient with Vascular Ehlers Danlos Syndrome (EDS-4) (P12-053-19)
A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Wnt1/βcatenin injury response activates the epicardium and cardiac fibroblasts to promote cardiac repair
Wnt1/βcatenin signaling is crucial for heart repair after injury.
research Fibroblast Growth Factor 21 is Differentially Expressed in Flank Skin and Regulates the Proliferation of Hair Follicle Cells in Yak
research Dermal Blimp1 Acts Downstream of Epidermal TGFβ and Wnt/β-Catenin to Regulate Hair Follicle Formation and Growth
Blimp1 is crucial for hair follicle growth and skin health.
research Myocardial NF-κB activation is essential for zebrafish heart regeneration
NF-κB is crucial for zebrafish heart repair, affecting heart cell growth and repair processes.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Telomere dysfunction impairs epidermal stem cell specification and differentiation by disrupting BMP/pSmad/P63 signaling
Telomere damage affects skin and hair follicle stem cells by messing up important growth signals.
research Expression of ΔNLef1 in mouse epidermis results in differentiation of hair follicles into squamous epidermal cysts and formation of skin tumours
Overexpression of ΔNLef1 in mouse skin leads to hair loss, cysts, and skin tumors.
research De novo designed bifunctional proteins for targeted protein degradation
Newly designed proteins can effectively degrade specific proteins in cells, offering a promising alternative for targeted protein degradation.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Alopecia Universalis with Frequently Relapsing Nephrotic Syndrome of Infantile Onset: A Rare Presentation
This case report describes a rare presentation of alopecia universalis (AU) associated with frequently relapsing nephrotic syndrome (FRNS) of infantile onset in a 3-year-old girl. The patient experienced hair loss from the scalp and eyebrows starting at 2 months of age, followed by symptoms of nephrotic syndrome at 11 months. Despite initial response to high-dose corticosteroids, AU recurred and did not respond to subsequent treatments with low-dose corticosteroids, mycophenolate mofetil, or tofacitinib. The case suggests a genetically driven immune dysregulation linking AU and FRNS, with potential implications for treatment using more specific JAK kinase inhibitors. This is a novel case due to the early onset and family history of nephrotic syndrome, highlighting the need for further research into the pathogenesis and treatment of this association.
research Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis
A new rat strain with a specific gene mutation causes hair loss and kidney issues.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Human TSC2-null fibroblast-like cells induce hair follicle neogenesis and hamartoma morphogenesis
Cells from a skin condition can create new hair follicles and similar growths in mice, and a specific treatment can reduce these effects.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research Mitochondrial Complex I Activity Suppresses Inflammation and Enhances Bone Resorption by Shifting Macrophage-Osteoclast Polarization
Mitochondrial Complex I reduces inflammation and increases bone breakdown by affecting certain immune cells.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells
Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research 1386 Trichodysplasia spinulosa small T antigen drives ectopic hair follicle development in adult transgenic mice
The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
research Frontal Fibrosing Alopecia in Men: Presentations in 12 Cases and a Review of the Literature
FFA in men, often mistaken for other hair loss types, may be more common than thought and needs larger studies for confirmation.