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Ataxia Telangiectasia and Rad3-related protein

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Stress-Sensing in the Human Greying Hair Follicle: Ataxia Telangiectasia Mutated (ATM) Depletion in Hair Bulb Melanocytes in Canities-Prone Scalp

research Stress-Sensing in the Human Greying Hair Follicle: Ataxia Telangiectasia Mutated (ATM) Depletion in Hair Bulb Melanocytes in Canities-Prone Scalp

14 citations , October 2020 in “Scientific reports”

Hair greying is linked to reduced ATM protein in hair cells, which protects against stress and damage.

research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity

65 citations , September 2014 in “Orphanet Journal of Rare Diseases”

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

research Abnormal Saccadic Oscillations Associated with Severe Acute Respiratory Syndrome Coronavirus 2 Encephalopathy and Ataxia

11 citations , November 2020 in “Movement Disorders Clinical Practice”

A man developed neurological issues from SARS-CoV-2 without severe breathing problems, worsening to death.

research Phenotypic Variation in Biotinidase Deficiency

184 citations , August 1983 in “The journal of pediatrics/The Journal of pediatrics”

Biotinidase deficiency has various symptoms and can be treated with biotin supplements.

research Skin Manifestations in Primary Immunodeficient Children

57 citations , March 2011 in “Pediatric Dermatology”

Nearly half of children with primary immunodeficiency disorders showed skin problems, often as the first sign of their condition.

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community TWIST-1 and the cure: Is it really that easy?

in Research/Science 283 upvotes 3 years ago

TWIST-1 gene's role in hair loss and potential as a treatment target. Inhibiting TWIST-1 may prolong hair growth and reduce hair follicle sensitivity to DHT.