research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
Search
for
Sort by
Research
150-180 / 1000+ results
research A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia
The EDAR gene greatly affects hair thickness in Asian populations.
research Predicting Human Appearance from DNA for Forensic Investigations
DNA can predict physical traits like eye and hair color accurately, especially in Europeans, but predicting other traits and in diverse populations needs more research.
research Forensic DNA Phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research BRCA2 in abscission
The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
research De novo designed bifunctional proteins for targeted protein degradation
Newly designed proteins can effectively degrade specific proteins in cells, offering a potential new therapy method.
research Serine-rich ultra high sulfur protein gene expression in murine hair and skin during the hair cycle
research Specific Citrullination Causes Assembly of a Globular S100A3 Homotetramer
A specific chemical change in the S100A3 protein leads to the formation of a four-part structure important for hair formation.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Identification of a Cyclosporine-Specific P450 Hydroxylase Gene through Targeted Cytochrome P450 Complement (CYPome) Disruption in Sebekia benihana
A gene in Sebekia benihana, CYP-sb21, is needed for a specific reaction on the drug Cyclosporine A, which could be important for hair growth without affecting the immune system.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Molecular cloning, characterization, and expression of sheep FGF5 gene
Researchers identified a new variant of the FGF5 gene in sheep that affects hair length.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Characterization of the cysteine-rich calcium-binding S100A3 protein from human hair cuticles
Scientists found out how a specific protein in human hair cuticles behaves and is structured.
research Adipocyte-Derived Amino Acid Storage Proteins are Required for Germline Stem Cell Maintenance in Adult Drosophila Females
Amino acid storage proteins are essential for maintaining stem cells in female fruit flies.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Regulation of stem cell function by protein ubiquitylation
Protein ubiquitylation is crucial for controlling stem cell functions and could be targeted for cancer treatment.
research Novel Insights into TSC22D Family Genes in Metabolic Diseases and Cancer
TSC22D genes are key in metabolic diseases and cancer, offering potential as treatment targets.
research Integrated Lipidomics in the Secreted Phospholipase A2 Biology
Different sPLA2 enzymes have unique roles in phospholipid metabolism and biological processes.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research Sjogren-Larsson syndrome
A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
research Lysine Carboxymethyl Cysteinate (LCC) Protects the Epidermis from UVB-Induced Barrier Damage Through the Activation of Autophagy
Lysine carboxymethyl cysteinate (LCC) protects skin from UVB damage by activating autophagy.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
research Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.