research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
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research Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Early onset female pattern hair loss: a case–control study for analyzing clinical features and genetic variants
Early onset female hair loss is linked to lower hair density, scalp issues, and certain genetic factors.
research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
Significant progress was made in understanding PXE, but effective treatments are still needed.
research 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum
Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
research Genetic association of wool quality characteristics in United States Rambouillet sheep
Certain genetic markers linked to wool quality in Rambouillet sheep were identified, which can guide better breeding choices.
research A woman with iatrogenic androgenetic alopecia responding to finasteride
EF and PXE not closely related.
research Persistent Hypoglycemia and Macrosomia in a Newborn
A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
research Zebrafish Model of Hereditary Pigmentary Disorders
Zebrafish help understand genetic causes of skin pigment disorders like albinism.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research To Control Site-Specific Skin Gene Expression, Autocrine Mimics Paracrine Canonical Wnt Signaling and Is Activated Ectopically in Skin Disease
The research suggests that a specific skin gene can be controlled by signals within and between cells and is wrongly activated in certain skin diseases.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Transcriptome analyses of reprogrammed feather / scale chimeric explants revealed co-expressed epithelial gene networks during organ specification
Key genes can rewire networks, changing skin appendage types.
research Identification of differentially expressed genes affecting hair and cashmere growth in the Laiwu black goat by microarray
Specific genes influence hair and cashmere growth in Laiwu black goats.
research Investigating RNA-Seq-based differential gene expression during hair follicle development in Angora goat skin
Angora goat hair growth is influenced by gene expression, sex hormones, and breed differences.
research Dimorphic regulation of the MafB gene by sex steroids in hamsters (Mesocricetus auratus)
Sex steroids affect the MafB gene differently in male and female hamsters.
research Peripheral blood gene expression in alopecia areata reveals molecular pathways distinguishing heritability, disease and severity
Blood tests can help understand the genetic differences in people with alopecia areata, including how severe it is and if it's inherited.
research Expression Profiling Reveals Genes Involved in the Regulation of Wool Follicle Bulb Regression and Regeneration in Sheep
The research identified genes and pathways important for sheep wool growth and shedding.
research Discovery of genes and proteins possibly regulating mean wool fibre diameter using cDNA microarray and proteomic approaches
Researchers identified genes and proteins that may influence wool thickness in sheep.
research Gene expression profiling of human keratinocytes exposed to the hair-dying agent, m-aminophenol
m-Aminophenol in hair dye can cause skin cell toxicity and stress responses.
research Decay of Skin-Specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, leading to their unique scales and skin features.
research Convergent Decay of Skin-specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, showing complex skin evolution.
research Allopregnanolone promotes proliferation and differential gene expression in human glioblastoma cells
Allopregnanolone increases growth and changes gene activity in human brain cancer cells.
research Compilation of a comprehensive gene panel for systematic assessment of genes that govern an individual’s drug responses
Researchers found that most genes affecting drug responses are not fully covered by commercial SNP chips, suggesting the need for more comprehensive tools to optimize drug selection based on genetics.
research 420 Severe thiopurine-induced myelotoxicity and hair loss in Japanese patients with NUDT15 gene variant: A retrospective case-control study
Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.