research Paxbp1 is Indispensable for the Maintenance of Hair Follicle Homeostasis
The Paxbp1 gene is crucial for healthy hair follicles.
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research PS10:189 Neuropsychiatric lupus. a severe manifestation of systemic lupus erythematosus
Neuropsychiatric lupus is a severe form of lupus that needs strong treatment to improve life quality.
research [Studies on monilethrix].
Monilethrix is not caused by a metabolic defect.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Multiple paraneoplastic syndromes: Myasthenia gravis, vitiligo, alopecia areata, and oral lichen planus associated with thymoma
Removing the thymoma improved the man's autoimmune conditions.
research Follicular ichthyosis
The four patients have a unique type of ichthyosis affecting hair follicles.
research 1434 Epithelially derived MPZL3 negatively regulates murine and human sebaceous gland size and sebocyte proliferation
MPZL3 protein helps control the size of oil glands and the growth of oil-producing cells in both mice and humans.
research A 36-Year-Old Woman With an Unexpected Cause of Hypokalemia
A 36-year-old woman with low potassium levels was found to have Cushing disease, and after treatment, her potassium levels normalized.
research Thymoma without Myasthenia Gravis Showing Size Fluctuation in Parallel to Alopecia Areata Activity: A Case Report
Removing the thymoma improved the patient's alopecia areata, suggesting a possible link between the two.
research N-terminal functional domain of Gasdermin A3 regulates mitochondrial homeostasis via mitochondrial targeting
Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
research Complications of Mesotherapy
Mesotherapy can cause serious side effects like infections and skin reactions.
research Dermoscopy: A rapid bedside tool to assess monilethrix
Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research Lipoatrophy and severe metabolic disturbance in mice with fat-specific deletion of PPARγ
Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
research THE INSUSCEPTIBILITY OF C57 BLACK MICE TO POST-IRRADIATION LEUKEMIA, SOME UNREPORTED POST-IRRADIATION CHANGES
CXCL7 is essential for muscle repair by aiding early neutrophil infiltration.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research [Monilethrix--rare syndrome of structural hair abnormalities].
Monilethrix is a rare hair disorder causing beaded, fragile hair, often improving on its own over time.
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 Motoneuron-Specific PTEN Deletion in Mice Induces Neuronal Hypertrophy and Also Regeneration after Facial Nerve Injury
Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
research Soft-tissue calcification in systemic lupus erythematosus
Soft-tissue calcification is rare in systemic lupus erythematosus.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research The Muscle Immobility of Depression—The Weightlessness Within
Depression may be linked to changes in body electrolytes and muscle inactivity, similar to effects of weightlessness.
research Congenital milia En plaque on scalp
A rare skin condition with cysts was found on a 5-year-old boy's scalp.
research Does myo-inositol oxygenase, the only enzyme to catalyze myo-inositol in vivo, play a role in the etiology of polycystic ovarian syndrome?
The enzyme myo-inositol oxygenase is not linked to the cause of polycystic ovarian syndrome.
research Lack of classic histology should not prevent diagnosis of necrolytic acral erythema
Consider necrolytic acral erythema in similar cases and treat with oral zinc sulfate.
research Acneiform follicular mucinosis
Acneiform follicular mucinosis can be controlled with systemic corticosteroids.
research Catamenial-like seizure exacerbation in mice with targeted ablation of extrasynaptic δGABA-a receptors in the brain
Removing certain brain receptors in mice worsens seizure severity and response to treatment during hormone withdrawal.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research What Syndrome Is This?
Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.