research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
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research A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT
The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research Expression analysis of proteasome maturation protein (POMP) gene in Liaoning Cashmere goat
The POMP gene is active in various goat tissues and affects hair growth, with certain treatments influencing its expression.
research The Shaven (Sha) Mutation, Chromosome 15
The Shaven mutation in mice affects hair growth and causes a greasy coat due to abnormal lipid content.
research Colourless side of the nude mutation: Foxn1 and hair pigmentation
Foxn1 is essential for hair pigmentation by directing pigment transfer to hair cells.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research Active mitochondria in healthy spiny mouse fibroblasts resemble megamitochondria and remain resilient across lifespan
Spiny mice have resilient, large mitochondria that help them regenerate tissue.
research Trans glutaminase-mediated cross-linking in mammalian epidermis
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance
Two children with lysinuric protein intolerance showed symptoms similar to lupus.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research Hair Defects and Pup Loss in Mice with Targeted Deletion of the First Cut Repeat Domain of theCux/CDPHomeoprotein Gene
Deleting part of a gene in mice causes wavy hair and high pup loss.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix
Monilethrix causes brittle hair and hair loss, and it runs in families.
research Suppression of mammary tumorigenesis in transgenic mice by the RXR-selective retinoid, LGD1069.
LGD1069 effectively prevents breast tumors in mice without toxicity.
research Graham-Little-Piccardi-Lasseur Syndrome: A Case Report
Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
research Decision letter: Interplay of opposing fate choices stalls oncogenic growth in murine skin epithelium
Skin cells can naturally limit the growth of cancerous changes by balancing cell renewal and differentiation.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Nevus psiloliparus: Newly described histopathological features from transverse sections
Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
research Flexural follicular lichen planus
Flexural follicular lichen planus is a rare skin condition affecting body folds.
research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Folliculotropic Mycosis Fungoides with Skewed T-cell Receptor CDR3 Motif: Suggestive of Lipid-antigen Selection?
Lipid-antigen stimulation may play a role in folliculotropic mycosis fungoides.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research The disrupted balance between hair follicles and sebaceous glands inHoxc13‐ablated rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
research Latent transforming growth factor beta-binding protein 1 (LTBP1): roles as a multifunctional extracellular matrix regulator in human disease. From molecular mechanisms to clinical translation prospects
LTBP1 is a key regulator in diseases and a potential target for new treatments.
research Genetic architecture of mouse skin inflammation and tumour susceptibility
Lgr5 and the vitamin D receptor are key in controlling skin inflammation and tumor risk in mice.
research Increased PHGDH expression promotes aberrant melanin accumulation
Higher PHGDH levels cause unusual melanin buildup in hair follicles.