research Investigation of the association of the MLPH gene with seasonal canine flank alopecia in Rhodesian Ridgeback dogs
The MLPH gene is not linked to seasonal hair loss in Rhodesian Ridgeback dogs.
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research TRP Channels in Skin Biology and Pathophysiology
TRP channels in the skin are important for sensation and health, and targeting them could help treat skin disorders.
research CD98hc (SLC3A2) regulation of skin homeostasis wanes with age
CD98hc's role in skin health decreases with age.
research Central Centrifugal Cicatricial Alopecia (CCCA)
CCCA is a common hair loss condition in African American women, often inherited and influenced by hairstyling, with unique scalp features detectable by special tools.
research Multiple iridociliary cysts in patients with mucopolysaccharidoses
research Local Positive Feedback Regulation Determines Cell Shape in Root Hair Cells
Reactive oxygen species and calcium create a feedback loop that shapes root hair cells.
research Trichorhinophalangeal Syndrome
Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
research Comparison of hair manifestations in cardio‐facio‐cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth
The RAS pathway affects hair growth differently in CFCS and CS.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research A simple immunofluorescence technique for simultaneous visualization of mast cells and nerve fibers reveals selectivity and hair cycle - dependent changes in mast cell - nerve fiber contacts in murine skin
Mast cell and nerve fiber interactions in mouse skin change with the hair cycle.
research Spreading of Isolated Ptch Mutant Basal Cell Carcinoma Precursors Is Physiologically Suppressed and Counteracts Tumor Formation in Mice
External factors can cause skin cancer cells that usually don't spread to grow and form tumors in mice.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research 4 Vitamin D resistance
Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
research 578 Addressing the missing components for appropriate surveillance of Merkel cell carcinoma patients: Detailed recurrence data and an integrated risk analysis approach
Merkel cell carcinoma is most likely to recur within two years of diagnosis, and factors like immune suppression, being over 75, and male sex increase this risk.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Cronkhite-Canada syndrome associated with colon cancer metastatic to liver
A patient with Cronkhite-Canada Syndrome developed colon cancer that spread to the liver, showing the need for regular cancer checks in such patients.
research Structural changes in the trichocyte intermediate filaments accompanying the transition from the reduced to the oxidized form
Oxidation changes the structure of hair protein filaments, causing them to compact and rearrange.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research 586 Increase in CD8+ effector memory cells re-expressing CD45RA (TEMRA) reflects disease activity and enables early prediction of therapeutic outcome in rapidly progressive alopecia areata
Increased TEMRA cells can predict treatment outcomes in rapidly progressive alopecia areata.
research Connexin 30, a new marker of hyperproliferative epidermis
Connexin 30 is usually absent in normal skin but can appear in certain skin conditions.
research Biochemical and immunohistochemical analyses of keratin expression in basal cell carcinoma
Basal cell carcinoma shows keratin patterns similar to undifferentiated hair follicle cells.
research Merkel cell differentiation in trichoblastoma
Trichoblastomas may mimic fetal skin development by having many Merkel cells, unlike adult skin.
research BIPHENOTYPIC LEUKAEMIA
Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.
research Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.