research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
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870-900 / 1000+ results research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
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 Epithelial Fibronectin meshwork controls skin regeneration
Fibronectin is essential for hair follicle regeneration by supporting stem cells.
research Pathogenic Mechanisms and Mechanism‐Directed Therapies for Androgenetic Alopecia: Current Understanding and Future Directions
Targeting multiple pathways may improve treatments for androgenetic alopecia.
research Epigenetic Mechanisms, Assessment and Therapeutics of Epidermal Stem Cells in Skin Aging
Epigenetic changes in skin cells contribute to aging, but targeting these changes may offer new antiaging treatments.
research The First Case of Extensive Metastatic Pancreatic Mixed Acinar-neuroendocrine Carcinoma(MANEC) in a Cat
A cat had a rare, aggressive pancreatic cancer that spread quickly and led to its death.
research Giant Keratoacanthoma Mimicking Squamous Cell Carcinomain a Patient with Chronic Myeloid Leukemia
Giant keratoacanthoma can look like squamous cell carcinoma, requiring careful diagnosis and surgical removal.
research Adli Uygulamalarda Yeni Nesil Dizileme Teknolojilerinin Yeri ve Önemi
Next-Generation Sequencing improves forensic analysis by providing detailed genetic information quickly.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Updates to Male Infertility: AUA/ASRM Guideline (2024)
The 2024 guideline updates recommendations for genetic testing, imaging, and sperm retrieval in male infertility.
research Regenerative Cosmetics: Skin Tissue Engineering for Anti-Aging, Repair, and Hair Restoration
Regenerative cosmetics can improve skin and hair by reducing wrinkles, healing wounds, and promoting hair growth.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research The vitamin B5/coenzyme A axis: A target for immunomodulation?
Vitamin B5 and coenzyme A may help regulate the immune system and could improve treatments for chronic diseases and cancer.
research Androgenetic Alopecia in Men: An Update On Genetics
Androgenetic alopecia in men is genetic and linked to health issues like obesity and heart disease, with treatments including minoxidil, finasteride, and hair transplants.
research ST14 interacts with TMEFF1 and is a predictor of poor prognosis in ovarian cancer
High levels of ST14 and TMEFF1 proteins in ovarian cancer are linked to worse patient outcomes and may be a new treatment target.
research Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
research Signaling pathways and targeted therapeutic strategies for polycystic ovary syndrome
Effective PCOS treatments require targeting specific signaling pathways.
research GLABROUS INFLORESCENCE STEMS3 binds to and activates RHD2 and RHD4 genes to promote root hair elongation in Arabidopsis
A protein called GIS3 is important for the growth of root hairs in Arabidopsis by controlling two genes with the help of certain growth signals.
research Witnessed trauma exposure induces fear in mice through a reduction in endogenous neurosteroid synthesis
Seeing trauma causes fear in mice by lowering their natural fear-reducing hormones.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Examples of Clinical Use of Botulinum Toxin: A Literature Review
Botulinum toxin is effectively used to treat various painful conditions and its therapeutic uses are growing.
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 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research A Preview of Selected Articles
New treatments for hair loss, fertility, and wound healing are being explored.
research Tricholemmoma and tricholemmal carcinoma and Cowden syndrome
Tricholemmoma is linked to Cowden syndrome and can be benign or malignant.
research Factors Driving Unique Urination Phenotypes of Male and Female 9-week-old C57BL/6J Mice
Testosterone significantly affects urination differences between male and female mice.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.