research Vitamin D Receptor, UVR, and Skin Cancer: A Potential Protective Mechanism
Vitamin D receptor may help protect against UV-induced skin cancer.
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research SnapshotDx Quiz: August 2019
The research found that male pattern hair loss is mostly genetic and involves hair thinning due to hormonal effects and changes in gene expression.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Fetal Programming of Polycystic Ovary Syndrome by Androgen Excess: Evidence from Experimental, Clinical, and Genetic Association Studies
Exposure to too much androgen before birth might cause polycystic ovary syndrome later in life.
research Molecular epidemiology of hypospadias: Review of genetic and environmental risk factors
Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
research Whole-genome sequencing of eight goat populations for the detection of selection signatures underlying production and adaptive traits
Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.
research Complex genetic dependencies among growth and neurological phenotypes in healthy children: Towards deciphering developmental mechanisms
Genetic factors influence growth and brain development in children.
research Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
research Genetic variations associated with response to dutasteride in the treatment of male subjects with androgenetic alopecia
Genetic variations affect dutasteride treatment response for male pattern hair loss.
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 Global Landscapes of Human Phenotypic Variation in Inherited Traits
Different human traits like skin color and hair type vary between populations due to genetic adaptations to the environment.
research Finding bald spots on chromosome 20p11
New genes linked to male pattern baldness were found on chromosome 20p11.
research Potential genetic associations of acne scar phenotypes: IL1A in fibrotic scarring and CYB5R1 in atrophic scarring
CYB5R1 and IL1A genes may be linked to different types of acne scars.
research Reclassification of Botryococcus braunii chemical races into separate species based on a comparative genomics analysis
Botryococcus braunii's three chemical races should be reclassified as separate species.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research Interferon in the treatment of cutaneous T-cell lymphoma
Interferon, especially alfa interferon, is an effective treatment for cutaneous T-cell lymphoma with manageable side effects.
research Human genetic basis of coronavirus disease 2019
Genetic differences affect COVID-19 severity and treatment development.
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 Host Genetic Susceptibility and Impacts of Dietary Factors on Covid-19
Certain genes and nutrients like vitamin D, zinc, and omega fatty acids affect COVID-19 severity and infection risk.
research An Updated Nomenclature for Keratin-Associated Proteins (KAPs)
The document introduced a new naming system for keratin-associated proteins to improve clarity and communication across species.
research Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels
Men with less sun-sensitive skin have lower PSA levels, while men with more sun-sensitive skin have higher PSA levels.
research The oestrogen receptor 2 (ESR2) gene in female-pattern hair loss: replication of association with rs10137185 in German patients
ESR2 gene linked to female-pattern hair loss.
research Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome (PCOS) Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
research Polymorphisms of the Androgen Receptor Gene and the Estrogen Receptor β Gene Are Associated with Androgen Levels in Women1
Certain genetic variations in the AR and ERβ genes can affect androgen levels in women.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research PINK1 deficiency rewires early immune responses in a mouse model of Parkinson’s disease triggered by intestinal infection
PINK1 is important for controlling gut immune responses linked to early Parkinson's disease.