research Comparison of hair manifestations in cardio‐facio‐cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth
The RAS pathway affects hair growth differently in CFCS and CS.
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660-690 / 1000+ resultsresearch Comparison of hair manifestations in cardio‐facio‐cutaneous and Costello syndromes highlights the influence of the
research Keratinocyte-specific ablation of the NF-κB regulatory protein A20 (TNFAIP3) reveals a role in the control of epidermal homeostasis
A20 protein is crucial for normal skin and hair development.
research 1381 Investigating the role of Mef2c in hair follicle cycling
MEF2C is crucial for normal hair cycle progression.
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 A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
research Editors' Picks
Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
research GWASs Identify Genetic Loci Associated with Human Scalp Hair Whorl Direction
Certain genes influence the direction of hair whorls on the scalp.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.
research Selection signatures in goats reveal a novel deletion mutant underlying cashmere yield and diameter
A specific genetic deletion in goats affects cashmere yield and thickness.
research O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes
CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
research Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation
Desmocollin 1 is essential for strong skin and proper skin function.
research Gender-Difference in Hair Length as Revealed by Crispr-Based Production of Long-Haired Mice with Dysfunctional FGF5 Mutations
Male mice with FGF5 mutations grow longer hair than females.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
A study on a patient with IFAP syndrome, characterized by ichthyosis, alopecia, and photophobia, identified a hemizygous intronic variant in the MBTPS2 gene. This variant, previously known to cause a 20-base skipping in exon 7, was further investigated using long-read RNA sequencing. The analysis revealed additional skipping of exons 6 and 7 and a significant reduction in normal transcript expression compared to healthy skin. This highlights the utility of long-read RNA sequencing in identifying diverse transcript isoforms and understanding the impact of splice-altering variants.
research Ligand‐independent Regulation of the hairless Promoter by Vitamin D Receptor†
Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
research Hair of the Dog: Identification of a Cis-Regulatory Module Predicted to Influence Canine Coat Composition
Researchers found a genetic region that influences the number of coat layers in dogs.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research Hoxc13 Expression Pattern in Cashmere Goat Skin During Hair Follicle Development
Hoxc13 gene expression and skin thickness change similarly during cashmere goat hair follicle development.
research [Genetic and biochemical aspects of keratin synthesis by hair follicles].
Coordinated gene activities are crucial for normal hair growth.
research The activin binding proteins follistatin and follistatin-related protein are differentially regulated in vitro and during cutaneous wound repair
FLRG and follistatin have different roles in wound healing.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Identification of Differentially Expressed Genes During a Wool Follicle Growth Cycle Induced by Prolactin
Certain genes are linked to wool follicle structure and function, but not hair cycle regulation.
research The G-Protein Couple Receptor Kinase 2 (GRK2) Orchestrates Hair Follicle Homeostasis
GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.
research 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes
The gene therapy showed significant wound healing and was safe for treating severe RDEB.
research Foxn1 promotes keratinocyte differentiation by regulating the activity of protein kinase C
Foxn1 helps skin cells mature by controlling a specific protein's activity.
research Application of PCR Technique to Detect Polymorphism of the KRTAP1.1 Gene in Three Sheep Breeds - A Review
The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
research 321 Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing HIF-P4H-2 from certain skin cells in mice causes hair loss on the body but not the head.
research Characterisation of the Ovine KRTAP36-1 Gene in Chinese Tan Lambs and Its Impact on Selected Wool Traits
The KRTAP36-1 gene affects wool quality in Chinese Tan lambs.