research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
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research A human prenatal skin cell atlas reveals immune cell regulation of skin morphogenesis
Immune cells are essential for early hair and skin development and healing.
research Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research Estudo da diversidade dos genes MC1R e SLC24A5 em populações globais: avaliação de aspectos evolutivos e ambientais
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
research Nociceptive and Nonnociceptive Roles of TRPV3 and Its “Druggability”
TRPV3 could be a target for treating pain, skin disorders, and hair problems, but more research is needed to create effective drugs.
research Risk factors for prostate cancer: a case-control study investigating selected key exposures and their interactions with predisposition genes
Age, race, family history, and certain genetic factors increase prostate cancer risk.
research Main Plenary Sessions: Summaries of Papers
UK medical students lack dermatology education, liver biopsy patients with risk factors show more fibrosis, and certain fungi resist drugs due to melanin; genetics may influence female hair loss.
research Genetics of Diabetes in Childhood
Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Evolution and genetic architecture of sex-limited polymorphism in cuckoos
Female cuckoo color differences are linked to their unique genes and help avoid male harassment.
research Regeneration Genetics
Understanding tissue regeneration in animals can improve regenerative medicine.
research The analysis of genetics and associated autoimmune diseases in Chinese vitiligo patients
Generalized vitiligo in Chinese patients is linked to other autoimmune diseases, especially in familial cases.
research Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution and Tumor Initiating Cells
Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
research The Epithelial Stem Cell Niche in Skin
Skin's epithelial stem cells are crucial for repair and maintenance, and understanding them could improve treatments for skin problems.
research Past, Present and Future Perspectives of Forensic Genetics
Forensic genetics can now predict physical traits and lifestyle habits, with future advancements expected from new technologies.
research Stem Cells in the Wild: Understanding the World of Stem Cells through Intravital Imaging
Intravital imaging helps us better understand stem cells in their natural environment and could improve knowledge of organ regeneration and cancer development.
research Large-Scale Plasma Proteomics and Genetic Integration Uncover Novel Biological Pathways in Male Pattern Baldness
New biological pathways and potential treatment targets for male pattern baldness were identified.
research Network-based identification genetic effect of SARS-CoV-2 infections to Idiopathic pulmonary fibrosis (IPF) patients
SARS-CoV-2 may worsen IPF due to shared genes and pathways, suggesting potential drug targets.
research Tabby pattern genetics – a whole new breed of cat
Two genes, Tabby and Ticked, determine cat coat patterns.
research Transcriptome meta-analysis reveals the hair genetic rules in six animal breeds and genes associated with wool fineness
Different sheep breeds share similar genetic factors affecting wool fineness.
research Resequencing and Signatures of Selective Scans Point to Candidate Genetic Variants for Hair Length Traits in Long-Haired and Normal-Haired Tianzhu White Yak
The research found specific genes that may cause longer hair in Tianzhu White Yak.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research Analysis of Genetic Diversity and Construction of a Core Collection of Ginkgo biloba Germplasm Using EST-SSR Markers
Ginkgo biloba has high genetic diversity, useful for future breeding.
research Machine learning driven multi-omics analysis of the genetic mechanisms behind the double-coat fleece formation in Hetian sheep
Key genes IRF2BP2 and EGFR are linked to Hetian sheep's double-coat fleece.
research Transcriptome analysis reveals the genetic basis underlying the formation and seasonal changes of nuptial pads in Rana chensinensis
Nuptial pads in Chinese brown frogs change seasonally due to specific gene activity.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Hormonal and Genetic Etiology of Male Androgenetic Alopecia
research Dissecting the genetic variations associated with response to first-line chemotherapy in patients with small cell lung cancer: a retrospective cohort study
Increased EGFR gene variations may predict chemotherapy outcomes in small cell lung cancer patients.