research Inborn errors of biotin metabolism
Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
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research Allelic frequencies for the seventeen Y-STR loci observed in Iraqi male patients with prostate cancer
Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.
research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research P78 Acrodermatitis enteropathica in children: clinical cases
Zinc supplements and genetic analysis help treat acrodermatitis enteropathica in children.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters
Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
research Is polycystic ovary syndrome a sexual conflict? A review
The conclusion suggests that PCOS may persist due to genetic traits that, while harmful for female fertility, could have provided survival and reproductive benefits to males.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research CURRENT UNDERSTANDING OF VITILIGO: A COMPREHENSIVE LITERATURE REVIEW
Vitiligo is a systemic disease with psychological effects, and new treatments focus on personalized care.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31
A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
research Familial Cortisol Resistance: Differential Diagnostic and Therapeutic Aspects
The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.
research Female Androgenetic Alopecia: A Separate Entity
Female and male AGA are different diseases.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research The endocrinology of baldness
Hormones and genetics play key roles in male and female baldness, which can affect mental health and may be linked to other health issues.
research Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions
The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
research Male Pattern Baldness
Male pattern baldness is often genetic and linked to a hormone, with treatments like finasteride and minoxidil being effective for some men.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene
A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research Understanding the molecular basis of mesenchymal stem cell stemness: implications for clinical applications
Understanding how mesenchymal stem cells stay undifferentiated can improve their use in treating diseases.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Vitiligo
Vitiligo is now seen as a systemic disease with promising new treatments and may offer protection against some diseases.
research Spectrum of clinical manifestations of SLE patients from India and its correlation with KIR gene polymorphism
Certain KIR genes in Indian SLE patients are linked to disease severity and could be biomarkers.
research Acknowledging the Clinical Heterogeneity of Lupus Erythematosus
Lupus is a complex disease that requires personalized treatment because it varies greatly between individuals.
research From bedside to bench: regulation of host factors in SARS-CoV-2 infection
The conclusion is that certain genetic factors and blood types may affect COVID-19 severity, but changes in ACE2 and TMPRSS2 genes are not clearly linked to it.
research Overlapping features of atopic dermatitis and alopecia areata: from pathogenesis to treatment
Atopic dermatitis and alopecia areata share immune and genetic factors, and targeted therapies may help both.