research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
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240-270 / 1000+ results research [Striatal involvement on MRI in adrenomyeloneuropathy].
MRI can show unusual brain changes in adrenomyeloneuropathy.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Barraquer–Simons syndrome with benign infundibulocystic proliferation
Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
research Finasteride
Finasteride can cause multiple side effects like tremors, dry skin, and rapid aging.
research Valproate‐associated hair abnormalities: Pathophysiology and management strategies
Valproate can cause hair problems, but there are ways to manage them.
research Prenatal transplantation of epidermal neural crest stem cells in malformation of cortical development mouse model
EPI-NCSCs from hair follicles may help treat brain development issues in mice.
research [Studies on monilethrix].
Monilethrix is not caused by a metabolic defect.
research Clin-Alert
In 2002, various drugs caused serious side effects, including vitamin B12 deficiency, heart issues, blindness, hypersexuality, allergic reactions, blood clotting problems, pupil dilation, capillary leak syndrome, muscle breakdown, hepatitis, skin reactions, and lupus.
research Acquired Localized Hypertrichosis Induced by Rivastigmine
An 80-year-old man grew extra hair on his forearms after starting Alzheimer's medication rivastigmine.
research Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms
Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
research Side effects of carbamazepine, valproate and clonazepam during long-term treatment of epilepsy
Carbamazepine, valproate, and clonazepam can cause mild to serious side effects during long-term epilepsy treatment.
research Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus
A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
research Generalized trichorrhexis nodosa
The hair disorder was caused by abnormal protein formation, making hair easily damaged.
research Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research Multiple Pilomatrixoma in Turner Syndrome
Multiple pilomatrixoma may indicate Turner syndrome.
research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
A mutation in the KRTHB5 gene causes hair and nail issues.
research Medical Notes in Parliament
Sodium valproate improved epilepsy control in most children but often caused weight gain and other mild side effects.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Treatment-resistant Schizophrenia and Global Cortical Atrophy in a Patient with Turner Syndrome
A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Satoyoshi Syndrome
Satoyoshi syndrome symptoms can improve with corticosteroids and surgery.
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
research Acute Encephalomyelitis Syndromes Associated with H1N1 Influenza Vaccinations; Erythema Multiforme Secondary to H1N1 Vaccine; Cytolytic Hepatitis Possibly Related to Oral Contraceptives; Drug Rash with Eosinophilia and Systemic Symptoms (DRESS) Syndrome Associated with Lamotrigine: First Report; Behavioral Disinhibition with Baclofen; Minoxidil-Induced Trichostasis Spinulosa of Terminal Hair; Delayed-Onset Mirtazapine-Related Leukopenia
Various medications and vaccines can cause serious side effects.
research Hair Shaft Disorders
Hair shaft disorders cause fragile, brittle, and abnormal-looking hair.
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.