research 303 The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank
Rare genetic variants in 125 genes are linked to male-pattern hair loss.
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750-780 / 1000+ resultsresearch Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Fibrosing alopecia in a pattern distribution in two brothers with pili multigemini
Genetic factors might cause fibrosing alopecia linked to hair shaft abnormalities.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research Simultaneous occurrence of neuromyotonia and morphoea: a cause-effect relationship?
Neuromyotonia and morphoea can occur together in the same body areas.
research Ovarian Morphology Is a Marker of Heritable Biochemical Traits in Sisters with Polycystic Ovaries
Polycystic ovarian shape is a genetic sign of PCOS and its hormonal and metabolic features can be inherited.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
research Genomic and transcriptomic landscape to decipher the genetic basis of hyperpigmentation in Lanping black-boned sheep (Ovis aries)
Two genes, ERBB4 and ROR1, may cause the unique pigmentation in Lanping black-boned sheep.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region
A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
research Alopecia Universalis Associated with a Mutation in the Human hairless Gene
A mutation in the human hairless gene causes alopecia universalis.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research Dietary and Genetic Aspects of Polycystic Ovary Syndrome (PCOS) in Polish Women-Part II: Association of
Genetic factors in PCOS are complex, with potential influences from the MC4R gene.
research Evidence From Men for Ovary-independent Effects of Genetic Risk Factors for Polycystic Ovary Syndrome
Genetic risk factors for Polycystic Ovary Syndrome can affect men too, not just women.
research Healthy individuals genetically at-risk for the development of Pemphigus vulgaris or Alopecia areata share disease-like cytokine dysregulation
Genetically at-risk healthy people show similar immune issues as those with Pemphigus vulgaris or Alopecia areata.
research Whole-Genome Resequencing Reveals Selection Signal Related to Sheep Wool Fineness
Genes linked to wool fineness in sheep have been identified.
research Polymorphisms in Genes Involved in Steroidogenesis in the Development of Severe Acne
Certain gene variations are linked to a higher risk of severe acne, suggesting a genetic influence on the condition.
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 The Paradox of p53: What, How, and Why?
The p53 protein has complex, sometimes contradictory functions, including tumor suppression and promoting cell survival.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems
Genetic screening can help diagnose and manage infertility in Slovenian couples.
research Polarized microscopy in genetic hair disorders: case series
Polarized microscopy helps identify hair irregularities in genetic disorders.
research Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
LIPH mutations cause woolly hair in some Chinese people.
research Adam10 haploinsufficiency causes freckle-like macules in Hairless mice
A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen
The research identified new skin traits in mice, some linked to human skin conditions.
research Pinkie, the First Viable Germline Hypomorph Allele of Retinoid X Receptor Alpha, Reveals an Important Role for RXRa in Th2 Development.
RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
research A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
A specific gene mutation causes woolly hair and hair loss.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.