research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
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research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
research Common variants in the sex hormone-binding globulin gene (SHBG) and polycystic ovary syndrome (PCOS) in Mediterranean women
Certain genetic variations in the SHBG gene are linked to an increased or decreased risk of PCOS in Mediterranean women.
research Premature aging and cancer development in transgenic mice lacking functional CYLD
Lack of functional CYLD in mice leads to early aging and cancer.
research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Molecular Aspects of Polycystic Ovarian Syndrome in Female Population in Karnataka at the Southwestern Region of India
PCOS in women from Karnataka is influenced by genetics, family history, and insulin resistance, requiring better diagnosis and treatment.
research RETRACTION: The Causal Relationship between Androgenetic Alopecia and Serum Uric Acid: A Bidirectional Mendelian Randomization Analysis
The article's findings are unreliable and have been retracted.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease
Researchers found two new genetic variants linked to Alzheimer's disease.
research PolyQ length co-evolution in neural proteins
PolyQ repeats in neural proteins evolve together, affecting brain function and disease.
research Deletion of Deoxyribonucleic Acid Binding Domain of the Vitamin D Receptor Abrogates Genomic and Nongenomic Functions of Vitamin D
Removing part of the vitamin D receptor stops vitamin D from working properly.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research Development and evaluation of novel rodent model of PCOS mimicking clinical phenotype in human disease
The new rodent model successfully mimics non-lean human PCOS symptoms.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Baldness and the androgen receptor: the AR polyglycine repeat polymorphism does not confer susceptibility to androgenetic alopecia
AR polyglycine repeat doesn't cause baldness.
research 1616 Cross-comparison of inflammatory skin disease transcriptomics identifies PTEN as a pathogenic disease classifier in cutaneous lupus erythematosus
PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.
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 Targeted expression of activated erbB-2 to the epidermis of transgenic mice elicits striking developmental abnormalities in the epidermis and hair follicles.
Activated erbB-2 in mice skin causes severe skin and hair abnormalities.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Editorial highlights
Recent advances show zebrafish can model anemia, Alx4 affects craniofacial and hair development, and mTORC1 is crucial for retinal development.
research From Piezoelectric Nanogenerator to Non-Invasive Medical Sensor: A Review
Piezoelectric Nanogenerators are promising for non-invasive health monitoring but need efficiency and durability improvements.
research Genetic variants in AR and SHBG and resistance to hormonal castration in prostate cancer
Certain genetic variants increase the risk of resistance to hormone therapy in prostate cancer patients.
research Depletion of Gsdma1/2/3 alleviates PMA-induced epidermal hyperplasia by inhibiting the EGFR–Stat3/Akt pathway
Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.
research Peroxisome Proliferator Activated Receptors Gamma Serum levels and Gene Polymorphism in Frontal Fibrosing Alopecia: A Case Control Study
Lower PPARγ levels and specific gene variations are linked to more severe Frontal Fibrosing Alopecia.
research Werner's syndrome: incidental finding during pregnancy
A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
research Genetic studies on the functional relevance of the protein prenyltransferases in skin keratinocytes
FTase and GGTase-I are essential for skin keratinocyte health.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research RNA sequencing reveals lncRNA-mediated non-mendelian inheritance of feather growth change in chickens
Long non-coding RNAs affect feather growth in chickens in ways that don't follow traditional genetic rules.
research Knockout of the ING5 epigenetic regulator confirms roles in stem cell maintenance and tumor suppression in vivo
ING5 is crucial for stem cell maintenance and preventing certain cancers.