research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
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720-750 / 1000+ results research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research Physiological skin oxygen levels: An important criterion for skin cell functionality and therapeutic approaches
Maintaining natural oxygen levels is crucial for healthy skin cells and effective treatments.
research Transcriptome Analysis Reveals an Inhibitory Effect of Dihydrotestosterone-Treated 2D- and 3D-Cultured Dermal Papilla Cells on Hair Follicle Growth
Dihydrotestosterone treatment on 2D and 3D-cultured skin cells slows down hair growth by affecting certain genes and could be a potential target for hair loss treatment.
research Isolation and identification of endophytic actinobacteria from Citrullus colocynthis (L.) Schrad and their antibacterial properties
Certain bacteria from the Citrullus colocynthis plant may be a new source of antibiotics to fight drug-resistant diseases.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits
Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
research Refractory/relapse thrombocytopenia in a patient with Evans' syndrome successfully treated with zanubrutinib
A girl with Evans' syndrome had her low platelet count successfully treated with zanubrutinib.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research RAGE and Its Ligands in Melanoma
RAGE is a potential target for melanoma treatment, but its effectiveness is uncertain due to variable expression levels.
research Impact of subclinical hypothyroidism on endocrine features in patients with polycystic ovary syndrome
Subclinical hypothyroidism in women with PCOS affects thyroid and hormone interactions but not ovary structure.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Adrenal and Gonadal Activity, Androgen Concentrations, and Adult Height Outcomes in Boys With Silver-Russell Syndrome
Higher androgen levels during puberty are linked to shorter adult height in boys with Silver-Russell syndrome.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research Cornified Epithelial Teeth of Jawless Vertebrates Contain Proteins Similar to Keratin-Associated Proteins of Mammalian Skin Appendages
Jawless vertebrates have teeth proteins similar to those in mammalian hair and nails.
research Circ 0020938 inhibits hair follicle stem cells proliferation via the miR-142-5p/DSG4 axis in cashmere goats
Circ 0020938 slows down hair growth in cashmere goats.
research Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
Genetic testing is crucial for diagnosing rare hair loss disorders.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research Evaluating Current and Emergent JAK Inhibitors for Alopecia Areata: A Narrative Review
JAK inhibitors show promise for treating alopecia areata but have serious side effects.
research New aspects of vitamin D metabolism and action — addressing the skin as source and target
research European Society of Endocrinology Clinical Practice Guideline: Endocrine work-up in obesity
Test thyroid function in all obese patients and prioritize weight loss for hormonal balance.
research An Overview of Biopolymeric Electrospun Nanofibers Based on Polysaccharides for Wound Healing Management
Polysaccharide-based nanofibers are promising for better wound healing.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Intracrine androgen biosynthesis, metabolism and action revisited
The document concludes that blocking the internal pathways that create androgens might help treat cancers that depend on sex hormones.
research Thou shall not heal: Overcoming the non-healing behaviour of diabetic foot ulcers by engineering the inflammatory microenvironment
Controlling inflammation can help heal diabetic foot ulcers.
research Interventions for central serous chorioretinopathy: a network meta-analysis
No single treatment is clearly effective for central serous chorioretinopathy.
research Switching roles: the functional plasticity of adult tissue stem cells
Adult tissue stem cells can adapt and switch roles to help repair and maintain the body.