research AIRE Deficiency Leads to the Development of Alopecia Areata‒Like Lesions in Mice
AIRE deficiency causes hair loss similar to alopecia areata in mice.
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research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
research Re‐Innovation in Clinical Trial Designs Based on Precision Therapy
Clinical trials should use innovative designs and biomarkers to improve precision therapy and patient outcomes.
research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
The ZIP13 variant is linked to abnormal hair quality.
research Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits
Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
research Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research The influence of ESR1 polymorphisms on selected hormonal, metabolic and mineral balance markers in women with hyperandrogenism
Certain ESR1 gene variations may affect hormone levels and fat distribution in women with high male hormone levels.
research Author response: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
research Author response: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)
CCC1 is essential for pH balance and normal cell function in plants.
research Decision letter: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)
CCC1 is essential for ion balance and proper plant cell function.
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 Decision letter: Epithelial cells supply Sonic Hedgehog to the perinatal dentate gyrus via transport by platelets
Hair follicles supply a crucial brain development protein to the brain via platelets.
research Tabby pattern genetics – a whole new breed of cat
Two genes, Tabby and Ticked, determine cat coat patterns.
research Towards Defining the Pathogenesis of the Hairless Phenotype
The hairless gene mutation causes baldness by disrupting hair follicle structure.
research Combinatorial Biosynthesis of Sulfated Benzenediol Lactones with a Phenolic Sulfotransferase from Fusarium graminearum PH-1
A fungal enzyme was used to make compounds more soluble, aiding drug discovery and crop protection.
research Dermal lymphatic dilation in a mouse model of alopecia areata
Mice with alopecia areata had wider lymphatic vessels in their skin.
research Comparative genome analyses reveal the unique genetic composition and selection signals underlying the phenotypic characteristics of three Chinese domestic goat breeds
Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research NFATc1 Balances Quiescence and Proliferation of Skin Stem Cells
NFATc1 controls hair stem cell activity, affecting hair growth and could be a target for hair loss treatments.
research New aspects of vitamin D metabolism and action — addressing the skin as source and target
research Wnt/β-catenin signalling: function, biological mechanisms, and therapeutic opportunities
The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
research Glycerol Regulates Stratum Corneum Hydration in Sebaceous Gland Deficient (Asebia) Mice
Glycerol is essential for skin hydration in mice without sebaceous glands.
research Physical and Functional Interaction between the Vitamin D Receptor and Hairless Corepressor, Two Proteins Required for Hair Cycling
Vitamin D receptor and hairless protein are essential for hair growth.
research Very-long-chain Acyl-CoA Synthetases
Very-long-chain acyl-CoA synthetases and fatty acid transport proteins play key roles in fatty acid metabolism and lipid processing in different tissues.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research The expanding significance of keratin intermediate filaments in normal and diseased epithelia
Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
research Tracking adult stem cells
A combined approach is needed to fully understand adult stem cells, with genetic lineage-tracing being crucial.
research Agouti and Agouti-related Protein: Analogies and Contrasts
Agouti and AGRP affect pigmentation and obesity, with implications for metabolic disorders.
research Identification of dkk4 as a target of Eda-A1/Edar pathway reveals an unexpected role of ectodysplasin as inhibitor of Wnt signalling in ectodermal placodes
Ectodysplasin inhibits Wnt signaling to help form hair follicles.
research A slow-cycling LGR5 tumour population mediates basal cell carcinoma relapse after therapy
A small group of slow-growing cells causes basal cell carcinoma to return after treatment.