research Amino acid–derived defense metabolites from plants: A potential source to facilitate novel antimicrobial development
Plant-derived amino acids can help develop new antimicrobial drugs.
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research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Does Nicastrin Inadequacy Cause Melanocytotoxicity in Human Skin as in the Fish Counterpart?
Nicastrin deficiency may cause skin cell damage and pigmentation disorders in humans, similar to effects seen in fish.
research A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia
A specific gene change in APCDD1 increases the risk of hair loss.
research Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague
Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
research SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Unilateral heterochromia of scalp hair with adjacent hypomelanotic skin lesions
The boy's hair and skin color differences are due to a pigmentation disorder.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
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 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
research A genetic electrophoretic variant of high-sulfur hair proteins for forensic hair comparisons. I. Characterization of variant high-sulfur proteins of human hair.
A genetic hair protein variant is more common in Japanese people and is inherited.
research Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
The same gene mutation can cause different symptoms in family members.
research Sickle Cell Disease Complications and BMI Percentiles of Pediatric Patients
Sickle cell disease affects BMI and pain frequency, with HbSS patients having more pain and unhealthy BMI.
research Dissecting the Heterogeneity of Skin Gene Expression Patterns in Systemic Sclerosis
Systemic sclerosis skin shows varied gene patterns, suggesting potential for personalized treatment.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.