research Premature Greying of Hair (Premature Canities): A Concern for Parent and Child
Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.
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research Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
research Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications
Adrenal disorders can cause lasting brain and behavior issues in children.
research Cysteine Prevents the Reduction in Keratin Synthesis Induced by Iron Deficiency in Human Keratinocytes
Cysteine helps maintain keratin production in skin cells even when iron is low.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research Xenobiotica-metabolizing enzymes in the skin of rat, mouse, pig, guinea pig, man, and in human skin models
Different species and human skin models vary in their skin enzyme activities, with pig skin and some models closely matching human skin, useful for safety assessments and understanding the skin's protective roles.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
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.
research Hair as an Index of Protein Malnutrition
Hair cystine levels may indicate protein malnutrition, but more research is needed.
research Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research Analysis of Cysteine on the Surface of Hair Fibers with Spectrofluorescence
Cysteine formation on hair indicates damage, best detected at pH 4.5.
research Determination of Cystine and Cysteine in Altered Human Hair Fibers
Cold waving solutions quickly reduce cystine to cysteine in hair.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector
MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
research Skin Cyst: A Pathological Dead-End With a New Twist of Morphogenetic Potentials in Organoid Cultures
Skin cysts might help advance stem cell treatments to repair skin.
research Colocalization of Cystatin M/E and its Target Proteases Suggests a Role in Terminal Differentiation of Human Hair Follicle and Nail
Cystatin M/E helps in the final stages of hair and nail formation by controlling certain enzymes.
research [The value of selenotherapy in patients with mucoviscidosis].
Selenium therapy improved health in cystic fibrosis patients with fewer side effects at a lower dose.
research Reduction mechanism of L ‐cysteine on keratin fibers using microspectrophotometry and Raman spectroscopy
L-cysteine slows down the breaking of bonds in hair due to electrostatic interactions.
research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
research Dermatitis as a Presenting Sign of Cystic Fibrosis
Recognizing certain rashes can lead to earlier cystic fibrosis diagnosis and better outcomes.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Premature aging and cancer development in transgenic mice lacking functional CYLD
Lack of functional CYLD in mice leads to early aging and cancer.