research 266 Myristoylphorbol Acetate (MPA) Enhances Metastasis Via Up-regulation of Eph A2 Transcription Activity
MPA increases cancer spread by boosting Eph A2 activity.
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960-990 / 1000+ results research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research Upadacitinib for the treatment of refractory alopecia areata in pediatric patients: A retrospective study
research Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report
The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
research Epidermolysis Bullosa Acquisita Occuring In A Patient With Systemic Lupus Erythematosus
A woman with lupus also developed a severe skin condition linked to a genetic factor.
research Alopecia in vitamin D-dependent rickets type II responding to 1α-hydroxycholecalciferol
A boy's hair loss and bone issues improved with specific vitamin D treatment and calcium.
research Drug-Induced Alopecia Areata From Upadacitinib
Upadacitinib may cause hair loss.
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Mercedes Flap With Releasing Incisions for Scalp Defects
The new Mercedes flap variant effectively closed medium-sized scalp defects in a single operation with good cosmetic results and no complications.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Double mutation of claudin‐1 and claudin‐3 causes alopecia in infant mice
Mutations in claudin-1 and claudin-3 cause hair loss in baby mice.
research SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
research Molecular basis of hypohidrotic ectodermal dysplasia: an update
Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
research JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease
A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.
research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research Pseudopelade of Brocq in beard area
Pseudopelade can affect both the scalp and beard, causing hair loss.
research Rickets with alopecia: An inborn error of vitaminD metabolism
Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies
Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation
A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
research Bilateral temporal alopecia in male androgenetic alopecia: An unusual new presentation
Atypical male hair loss may not respond to usual treatments.
research Matrisomal components involved in regenerative wound healing in axolotl and Acomys: implications for biomaterial development
Certain genes are more active during wound healing in axolotl and Acomys, which could help develop materials that improve human wound healing and regeneration.
research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
research Clinicopathologic observation of temporal triangular alopecia
Temporal triangular alopecia usually starts in early childhood and treatment with Minoxidil has limited effectiveness.
research Value of dermoscopy for the diagnosis of monilethrix
Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
research Lipedematous alopecia with mucinosis: report of the first case in Taiwan
Taiwan reported its first case of a rare scalp condition with no clear cause or treatment.
research Prospective Observational Study of a Non-Arthroscopic Autologous Cartilage Micrografting Technology for Knee Osteoarthritis
AMT® is effective and safe for early-stage knee osteoarthritis.