research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
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research Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
research Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells
Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research The investigation of selective sphingosine-1 phosphate receptor 1&4 modulator to treat alopecia areata mouse model 2881
The S1PR 1&4 modulator may effectively treat alopecia areata by reducing hair loss and immune cell activity.
research Il-10 family members as novel responders to genotoxic stress
IL-19 and IL-24 help cells respond to DNA damage and could be targeted for cancer and age-related disease treatments.
research The Rho guanosine nucleotide exchange factors Vav2 and Vav3 modulate epidermal stem cell function
Vav2 and Vav3 proteins help control skin stem cell numbers and activity in both healthy and cancerous cells.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research 026 Altered Skin Wound Healing in Homeobox Gene Msx-2 Knockout Mice
Msx-2 gene removal speeds up skin wound healing in mice.
research DNMT1 targets SRD5A2 to induce mitochondrial homeostasis and EMT in urothelial cells of hypospadias
DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21
research Isolation and characterization of a sheep cysteine-rich cuticle keratin pseudogene
Researchers found a non-functional sheep keratin gene due to mutations.
research Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
A point mutation in the androgen receptor gene causes complete androgen insensitivity.
research The genetic evolution of skin squamous cell carcinoma: tumor suppressor identity matters
The type of tumor suppressor gene lost affects the behavior of skin cancer.
research Effect of the FA2H Gene on cashmere fineness of Jiangnan cashmere goats based on transcriptome sequencing
The FA2H gene improves cashmere fineness by enhancing hair growth in goats.
research Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case–Control Study
The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
research Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
research Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Data from Activator Protein-1 Activity Regulates Epithelial Tumor Cell Identity
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
research Investigation the role of SIRT3, SIRT7, NFATC1, and PDL-1 genes in androgenetic alopecia
SIRT3 and SIRT7 genes may play a role in hair loss.
research 744 Role of Sdf1-Cxcr4 signaling in mouse appendage regeneration
Mice without the p21 gene can fully regenerate injured ears due to reduced Sdf1 increase and leukocyte recruitment, suggesting new ways to induce tissue regeneration in mammals.
research Author response: Interplay of opposing fate choices stalls oncogenic growth in murine skin epithelium
The balance between cell renewal and differentiation controls the growth of cancerous cells in mouse skin.
research Miz1 is required for hair follicle structure and hair morphogenesis
Miz1 is essential for proper hair structure and growth.
research Murine Epidermal Ceramide Synthase 4 Is a Key Regulator of Skin Barrier Homeostasis
Ceramide Synthase 4 is crucial for healthy skin barrier function.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
research Data from Activator Protein-1 Activity Regulates Epithelial Tumor Cell Identity
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.