research Alopecia in children
Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
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research What Is the Male Polycystic Ovary Syndrome Phenotype?
Men can have genetic risks for PCOS-related traits like obesity and diabetes.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Structural and epistatic regulatory variants cause hallmark white spotting in cattle
Two gene variants cause white spots in cattle.
research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research The Rotterdam Study: 2016 objectives and design update
The Rotterdam Study found risk factors for elderly diseases, links between lifestyle and genetics with health conditions, and aimed to explore new areas like DNA methylation and sensory input effects on brain function.
research Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
research A locus on distal chromosome 10 (ahl4) affecting age-related hearing loss in A/J mice
Scientists found a gene in mice that causes early hearing loss.
research Dissection of genetic variation and evidence for pleiotropy in male pattern baldness
Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research Genome-wide association study of skin complex diseases
Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
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 The Genetics of Seborrheic Dermatitis: A Candidate Gene Approach and Pilot Genome-Wide Association Study
No strong genetic link to other skin conditions was found, but some genetic factors may make people more likely to get seborrheic dermatitis.
research 25 years of ERβ: a personal journey
ERβ has potential in treating prostate cancer and neurodegenerative diseases, but human studies are needed before clinical use.
research Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
research Genetic Variants and Protective Immunity against SARS-CoV-2
Genetic differences affect how people respond to COVID-19.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
research Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss
Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
research MOESM1 of A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse
research Investigation of four novel male androgenetic alopecia susceptibility loci: no association with female pattern hair loss
No link found between new male baldness genes and female hair loss.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
A gene variant increases the risk of a type of hair loss by affecting hair protein production.
research Intra-host SARS-CoV-2 single-nucleotide variants emerged during the early stage of COVID-19 pandemic forecast population fixing mutations
Some early COVID-19 mutations in patients predicted future common virus mutations.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Grey, curly and short-haired Swiss Holstein cattle show genetic traces of the Simmental breed
Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.
research Author response: Quantitative mapping of human hair greying and reversal in relation to life stress
Hair can naturally regain color after greying, and this change may be linked to stress levels.
research Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study
Certain genes may help Bulgarians live longer.
research Decision letter: Quantitative mapping of human hair greying and reversal in relation to life stress
Hair can naturally regain color, and stress might influence greying and its reversal.