research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
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research AP-2α/AP-2β transcription factors are key regulators of epidermal homeostasis
AP-2α and AP-2β are crucial for healthy skin and hair.
research Mechanism of TAp73 inhibition by ΔNp63 and structural basis of p63/p73 hetero-tetramerization
ΔNp63α stops TAp73β from working in skin cancer by blocking its access to specific genes, not by directly interacting with it.
research Expression analysis of the type I keratin protein keratin 33A in goat coat hair
Keratin 33A is a key protein in goat winter coats, especially in high-producing breeds.
research Conjoint analysis of methylation, transcriptomic, and proteomic profiles in pemphigus vulgaris
Changes in genes FGA, VWF, and ACTG1 may contribute to pemphigus vulgaris.
research A hairy kinase
Sgk3 kinase is essential for normal hair growth in mice.
research Structure of human type II 5 alpha-reductase gene
The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research T H 1 effector CD4 T cells rely on IFN-γ production to induce alopecia areata
IFN-γ production by CD4 T cells is crucial for causing alopecia areata.
research An essential role for Rxrα in the development of Th2 responses
RXRα is crucial for proper immune response and links diet to immune function.
research Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
The same gene mutation can cause different symptoms in family members.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Characterization of the Human Hair Keratin–Associated Protein 2 (KRTAP2) Gene Family
KRTAP2 genes are crucial for hair structure and may impact hair disorders and treatments.
research Testing for GHB in Hair by GC/MS/MS after a Single Exposure. Application to Document Sexual Assault
Hair testing can detect a single GHB exposure, useful for documenting sexual assault.
research A conditional multi-trait sequence GWAS discovers pleiotropic candidate genes and variants for sheep wool, skin wrinkle and breech cover traits
Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.
research The G60S Connexin43 Mutant Regulates Hair Growth and Hair Fiber Morphology in a Mouse Model of Human Oculodentodigital Dysplasia
The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
research Genome-wide association study of atopic and autoimmune comorbidities in alopecia areata
Certain genes may be linked to autoimmune conditions in people with alopecia areata.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Filtration of Transgenic Sheep Skin Fibroblasts with KAP6.1-GFP-polymerized Spider Dragline Silk Protein Gene(4S)
Transgenic sheep cells with spider silk gene were successfully created for future sheep hair expression.
research Adiponectin serum levels and ADIPOQ (rs2241766) polymorphism in alopecia areata Egyptian patients
Certain gene variations and low adiponectin levels may increase the risk of hair loss in Egyptians.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Mesenchymal cell specific deletion of Tsc2 regulates hair follicle development and patterning
TSC2 is crucial for proper hair follicle development and patterning.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research Bioinformatics analysis of genes associated with the patchy-type alopecia areata: CD2 may be a new therapeutic target
CD2 might be a new treatment target for patchy alopecia areata.
research Spontaneous hair follicle germ (HFG) formation in vitro, enabling the large-scale production of HFGs for regenerative medicine
Researchers found a new way to create hair-growing structures in the lab that can grow hair when put into mice.
research Steroid 5α-reductase 2 deficiency leads to reduced dominance-related and impulse-control behaviors
Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.
research Role of human type II hair keratins in intermediate filament bundling in vitro
research Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
research Why Pashmina Goat Produces Long Hair-fiber and Barbari doesn’t: A Differential Gene Expression Study
Pashmina goats produce long hair-fiber due to specific gene expressions related to hair growth.