research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
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180-210 / 1000+ resultsresearch More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives
Promising treatments for EBS include anti-inflammatory drugs, antibiotics, creams, mTOR inhibitors, and gene editing, but more trials are needed.
research Expression of Signaling Components in Embryonic Eyelid Epithelium
Eyelid cells share signaling components but differ in pathway activity.
research Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion
Minoxidil helps restore thymus size in 22q11.2 deletion syndrome.
research Vitamins and their derivatives synergistically promote hair shaft elongation ex vivo via PlGF/VEGFR-1 signalling activation
Certain vitamins and their derivatives can help hair grow longer by activating specific growth signals.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Neuregulin3 alters cell fate in the epidermis and mammary gland
Neuregulin3 affects cell development in the skin and mammary glands.
research Two years of SARS-CoV-2 infection (2019–2021): structural biology, vaccination, and current global situation
Continued vaccine and drug development is crucial due to new virus variants and regional infection spikes.
research Basal cell carcinoma — molecular biology and potential new therapies
Blocking Hedgehog signaling offers new treatment options for advanced basal cell carcinoma.
research Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research How the leopard gets its spots: a transmembrane peptidase specifies feline pigmentation patterns
A gene called Taqpep affects cat coat patterns like stripes and blotches.
research An epistatic effect of KRT25 on SP6 is involved in curly coat in horses
The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
research Blank Spots in the Map of Human Skin: The Challenge for Xenotransplantation
Human skin xenografting could improve our understanding of skin development, renewal, and healing.
research Tracking adult stem cells
A combined approach is needed to fully understand adult stem cells, with genetic lineage-tracing being crucial.
research The crest phenotype in domestic chicken is caused by a 195 bp duplication in the intron of HOXC10
A 195 bp duplication in the HOXC10 gene causes crests in domestic chickens.
research Keratin expression by corneal and limbal stem cells during development
Different types of cells in the eye express specific keratins at various stages of development.
research A protein kinase target of a PDK1 signalling pathway is involved in root hair growth in Arabidopsis
AGC2-1 protein is essential for root hair growth in Arabidopsis.
research Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases
PADs are crucial for healthy skin and hair, and their imbalance can cause skin and hair disorders.
research Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Structural and epistatic regulatory variants cause hallmark white spotting in cattle
Two gene variants cause white spots in cattle.
research Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome
Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
research Decision letter: Hair follicle epidermal stem cells define a niche for tactile sensation
Hair follicle stem cells are crucial for touch sensation and proper nerve structure in mice.
research Author response: Sphingosine 1-phosphate-regulated transcriptomes in heterogenous arterial and lymphatic endothelium of the aorta
Sphingosine 1-phosphate affects inflammation and gene expression in different aorta cells.
research Deep Hair Phenomics: Implications in Endocrinology, Development, and Aging
A new tool can analyze hair to detect changes due to hormones, genetics, and aging.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.