research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
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810-840 / 1000+ results research An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
A Turkish woman has a hair condition caused by a LIPH gene mutation.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
research Null Mutation of 5α-Reductase Type I Gene Alters Ethanol Consumption Patterns in a Sex-Dependent Manner
research Combined C3b and Factor B Autoantibodies and MPGN Type II
The FDA did not approve certain drugs for prostate cancer prevention due to concerns about their effectiveness and potential risks.
research LB1011 Oncogenic ras mutation induces spatiotemporally specific tissue deformation through converting fluctuated into sustained ERK activation
A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
research Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
Mutation in hairless gene may increase hair loss risk.
research 266 Myristoylphorbol Acetate (MPA) Enhances Metastasis Via Up-regulation of Eph A2 Transcription Activity
MPA increases cancer spread by boosting Eph A2 activity.
research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
Certain genetic variants in keratins increase the risk of tooth decay.
research PC-SPES Studies Promising, But Manufacturer Shuts Down
Promising cancer treatments were found, but the manufacturer closed.
research The impact of certain genetic variants (single nucleotide polymorphisms) on incidence and severity of COVID‐19
Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.
research Severe Abnormalities in the Oral Mucosa Induced by Suprabasal Expression of Epidermal Keratin K10 in Transgenic Mice
Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
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 Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix
Monilethrix causes brittle hair and hair loss, and it runs in families.
research Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
Mutation in hairless gene may increase hair loss risk.
research Discovery of Four New FGF5 Variants Causing Long Hair in the Dog
Four new FGF5 gene variants cause long hair in dogs.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research Ovine KRT81 Variants and Their Influence on Selected Wool Traits of Commercial Value
KRT81 gene variations in sheep affect wool weight but not fiber length or thickness.
research Mice with a null mutation of the TGFα gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation
TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research Impaired Keratinocyte Proliferative and Clonogenic Potential in Transgenic Mice Overexpressing 14-3-3σ in the Epidermis
Overexpressing 14-3-3σ in mice skin reduces cell growth and hair density.
research Lentiginosis within plaques of linear atrophoderma of Moulin: a twin-spotting phenomenon?
The document suggests a rare skin condition might be caused by a genetic phenomenon.
research A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
research Hutchinson-Gilford Progeria Syndrome: Premature Aging
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.