research Genome-wide association study of skin complex diseases
Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
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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 Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research Genomic and transcriptomic landscape to decipher the genetic basis of hyperpigmentation in Lanping black-boned sheep (Ovis aries)
Two genes, ERBB4 and ROR1, may cause the unique pigmentation in Lanping black-boned sheep.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
research Advances in Hair Diseases
The review highlights the importance of stem cells in hair health and suggests new treatment strategies for hair loss conditions.
research ELL Facilitates RNA Polymerase II–Mediated Transcription of Human Epidermal Proliferation Genes
ELL is crucial for gene transcription related to skin cell growth.
research Stem cells tightly regulate dead cell clearance to maintain tissue fitness
Stem cells help remove dead cells to keep tissues healthy by balancing cell replacement and clearance.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Adrenal Cortex Tumors and Hyperplasias
Most adrenal cortex tumors are benign and non-secreting, but proper diagnosis and treatment are important due to the rare possibility of cancer.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research DNA Methylation‐Regulated ZDHHC17 Promotes the Risk of Facial Skin Aging
ZDHHC17 methylation may help treat or identify facial skin aging.
research Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Genome scan for signatures of adaptive evolution in wild African goat (capra nubiana)
Wild African goats have genetic adaptations for surviving harsh desert conditions.
research Single-cell sequencing reveals the intermediate cell state and function of dermal papilla cells in the hair follicle cycle of cashmere goats
Researchers found four key stages of cell development that are important for hair growth and shedding in cashmere goats.
research Resting no more: re‐defining telogen, the maintenance stage of the hair growth cycle
The telogen phase of hair growth is active and important for preparing hair follicles for regeneration, not just a resting stage.
research Cryptic Patterning of Avian Skin Confers a Developmental Facility for Loss of Neck Feathering
Birds can lose neck feathers due to a genetic change that increases a gene's activity, helping them adapt to heat.
research SOX11 and SOX4 drive the reactivation of an embryonic gene program during murine wound repair
SOX11 and SOX4 help skin cells act like embryonic cells to heal wounds in mice.
research Role of genetics and sex steroid hormones in male androgenetic alopecia and female pattern hair loss: An update of what we now know
Genetics and hormones play a role in male and female hair loss, but more research is needed to fully understand it.
research Current evaluation of amenorrhea
Amenorrhea is relatively rare and initial testing should check FSH, TSH, and prolactin levels.
research Adverse effects of common medications on male fertility
Some common medications can harm male fertility, but many effects can be reversed.
research Stem cells in tissues, organoids, and cancers
Stem cells are crucial for tissue growth, cancer treatment, and disease modeling, but challenges remain in clinical use.
research Steroid 5α-Reductase as a Novel Therapeutic Target for Schizophrenia and Other Neuropsychiatric Disorders
S5αR inhibitors might help treat schizophrenia and other mental disorders but need more research.
research Frontal fibrosing alopecia: reflections and hypotheses on aetiology and pathogenesis
FFA's causes may include environmental triggers and genetic factors.
research Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations
Researchers found 15 new genetic links to skin traits in Japanese women.
research Nonclassic adrenal hyperplasia
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
research New insights into the functions of Cox-2 in skin and esophageal malignancies
Cox-2 significantly contributes to the development and progression of skin and esophageal cancers.
research Regulation of masculinization: androgen signalling for external genitalia development
Male genital development is driven by androgen signaling and understanding it could help address congenital anomalies.
research Current evaluation of amenorrhea
The document concludes that identifying the cause of amenorrhea is crucial for proper treatment.