research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
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research Integrated Safety Analysis of Ritlecitinib, an Oral JAK3/TEC Family Kinase Inhibitor, for the Treatment of Alopecia Areata from the ALLEGRO Clinical Trial Program
Ritlecitinib is safe and well-tolerated for treating alopecia areata in patients aged 12 and older.
research Recessive Epidermolysis Bullosa Simplex Phenotype Reproduced in Vitro
Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research The Function of LPR1 is Controlled by an Element in the Promoter and is Independent of SUMO E3 Ligase SIZ1 in Response to Low Pi Stress in Arabidopsis thaliana
LPR1 regulates root growth under low phosphate stress independently of SIZ1 in Arabidopsis thaliana.
research The TRF1 telomere protein is essential for the generation and maintenance of iPS cells and marks both pluripotent and adult stem cells
TRF1 is crucial for creating and maintaining stem cells and marks both pluripotent and adult stem cells.
research Phosphatase Regulator NIPP1 Restrains Chemokine-Driven Skin Inflammation
NIPP1 is important for healthy skin and could help treat skin inflammation.
research Role of sgk1 in cancer: a bibliometric analysis from 2013 to 2023—review article
SGK1 is important in cancer growth and treatment resistance, and targeting it could improve therapies.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research 046 Analysing the mechanistic basis of Ritlecitinib’s therapeutic effects in Alopecia Areata
Ritlecitinib effectively treats severe Alopecia Areata by reducing harmful immune activity in the skin.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research The Mixed Lineage Kinase Leucine-Zipper Protein Kinase Exhibits a Differentiation-Associated Localization in Normal Human Skin and Induces Keratinocyte Differentiation upon Overexpression
ZPK helps skin cells mature and may affect skin health.
research Data from Ribonucleotide Excision Repair Is Essential to Prevent Squamous Cell Carcinoma of the Skin
Ribonucleotide excision repair is crucial to prevent skin cancer.
research 726 The Wnt-inhibitor Dkk4 is required for primary hair follicle induction and patterning
Dkk4 is necessary for the initial development and arrangement of hair follicles.
research Data from Ribonucleotide Excision Repair Is Essential to Prevent Squamous Cell Carcinoma of the Skin
Ribonucleotide excision repair is crucial to prevent skin cancer.
research 801 TEC family kinase inhibitors as a novel class of therapeutics in alopecia areata
ITK inhibitors may effectively treat alopecia areata.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Essential Role for Integrin-Linked Kinase in Melanoblast Colonization of the Skin
Integrin-linked kinase is crucial for melanoblasts to properly colonize the skin.
research Gpr54 deletion accelerates hair cycle and hair regeneration
Deleting Gpr54 speeds up hair growth and regeneration.
research Multiomics Analysis of the Response to Ritlecitinib in Alopecia Areata Subtypes and Correlation With Efficacy
Ritlecitinib helps reduce inflammation and promote hair regrowth in alopecia areata, especially in patchy-type cases.
research CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa.
Scientists created a cell model to study and find treatments for a skin disease called RDEB.
research XIAP Stabilizes DDRGK1 to Promote ER‐Phagy and Protects Against Noise‐Induced Hearing Loss
Increasing XIAP and DDRGK1 can help prevent hearing loss from loud noise.
research Correlation Analysis of BLTP1 (KIAA1109) and KIF27 Gene Polymorphisms with Wool Traits in Subo Merino Sheep
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research The functions and possible significance of Kremen as the gatekeeper of Wnt signalling in development and pathology
Kremen is crucial for proper development and preventing tumors by regulating Wnt signaling.
research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.