research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
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180-210 / 1000+ resultsresearch The occurrence of the ε-(γ-glutamyl)lysine cross-link in the medulla of hair and quill
research Uric Acid in a Male’s Life
High uric acid can cause health issues, so managing it with lifestyle changes is important.
research Protein and amino acid composition of hair from mice carrying the naked (N) gene
The N gene affects the protein makeup of mouse hair.
research Chicken scratches.
Biotinidase deficiency can be easily diagnosed and treated with biotin to prevent serious harm.
research Hypervitaminosis A in a Patient With Alopecia Receiving Renal Dialysis
Patients with renal disease may develop vitamin A toxicity even with low-dose supplements.
research Giant Axonal Degeneration: Scanning Electron Microscopic and Biochemical Study of Scalp Hair
The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.
research Crystalline Cataract and Uncombable Hair
The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Serial Hydrolysis for the Simultaneous Analysis of Catecholamines and Steroids in the Urine of Patients with Alopecia Areata
A new method was created to analyze certain chemicals in the urine of alopecia areata patients, revealing they have higher metanephrine content. This method can also be used for other related diseases.
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research New plaque protein identified in brains of people with Alzheimer's disease
Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.
research Causal effects of glutamine and lipid-related metabolites on alopecia areata: A 2-sample Mendelian randomization study
Glutamine may protect against alopecia areata, while certain cholesterol and glucose levels may increase risk.
research ATP6AP1‐CDG: Follow‐up and female phenotype
ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock
Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
research Comment on 'A prospective real world study evaluating serum levels of arginine and cysteine in females with chronic telogen effluvium: do we really need blanket prescription with amino acid supplementation?'
Amino acid supplements may not be necessary for all women with chronic hair loss.
research Hyperuricemia is associated with androgenetic alopecia in men: A cross‐sectional case‐control study
High uric acid levels link to male pattern baldness, especially in young men.
research High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy
Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
research Hyperandrogenism-Insulin Resistance-Acanthosis Nigricans Syndrome
The document concludes that HAIR-AN syndrome should be considered when a patient shows severe hyperandrogenism and insulin resistance after excluding tumors.
research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
A specific gene mutation causes complete hair loss without other health issues.
research Inhibition of Polyamine Synthesis Alters Hair Follicle Function and Fiber Composition
Polyamines, especially spermidine, are essential for hair growth.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Comparative Studies on Polyamine Levels in Plasma and Urine of Androgenic Alopecia Patients Treated with Finasteride for a Period of Three Years
Finasteride treatment for three years changes certain polyamine levels in the blood but not in urine.