research The role of AUTS2 in neurodevelopment and human evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
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research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research Targeting the Hippo/YAP /TAZ signalling pathway: Novel opportunities for therapeutic interventions into skin cancers
Blocking YAP/TAZ could be a new way to treat skin cancer.
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 Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
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 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 Increased copy number of the TERT and TERC telomerase subunit genes in cancer cells
Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.
research Epigenetic mechanism of Gtl2-miRNAs causes the primitive sheep characteristics found in purebred Merino sheep
A special gene region controls the re-emergence of a primitive wool type in Merino sheep, improving their wool yield and adaptability.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Research Highlights: Highlights from the latest articles in regenerative medicine
New treatments for diabetes, central nervous system repair, and cartilage injury were found, and a way to create functional hair follicles from stem cells was developed.
research Ottawa, Ontario, Canada, February 13–16, 2013
The document concludes that various findings in rheumatology offer insights into disease severity, treatment responses, and potential risks in medication, with some limitations due to unspecified participant numbers.
research The Roles of EDA2R in Ageing and Disease
EDA2R is a key gene linked to ageing and diseases, and targeting it may help treat conditions like hair loss and chronic diseases.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA
Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
research Pitfalls of PCR-Based Strategy for Genotyping Cre-Loxp Mice
PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
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 Vitamin D and Human Health: Lessons from Vitamin D Receptor Null Mice
Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.
research YAP and TAZ are essential for basal and squamous cell carcinoma initiation
YAP and TAZ proteins are necessary for the development of two types of skin cancer.
research Synergistic effect of sorafenib with Platycladus orientalis (L) leaf extract on cervical cancer
Sorafenib and Platycladus orientalis leaf extract together effectively suppress cervical cancer cell growth.
research STAT5 Activation in the Dermal Papilla Is Important for Hair Follicle Growth Phase Induction
STAT5 activation is crucial for starting the hair growth phase.
research Cholesterol homeostasis: Links to hair follicle biology and hair disorders
Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
research Laminin 332 Is Indispensable for Homeostatic Epidermal Differentiation Programs
Laminin 332 is essential for normal skin cell behavior and structure.
research The Tumor Suppressor Actions of the Vitamin D Receptor in Skin
Vitamin D receptor helps prevent skin tumors.
research Ligand-Independent Vitamin D Receptor Actions Essential for Keratinocyte Homeostasis in the Skin
Non-liganded Vitamin D Receptor is crucial for healthy skin and hair.
research Genetic Variants and Protective Immunity against SARS-CoV-2
Genetic differences affect how people respond to COVID-19.
research Author response: The signaling lipid sphingosine 1-phosphate regulates mechanical pain
Sphingosine 1-phosphate and its receptor S1PR3 are key in controlling mechanical pain.
research The role of Pygo2 during intestinal tumor initiation and progression in vivo
Pygo2 is important for early growth and progression of intestinal tumors, and could be a target for treating cancers with certain mutations.
research ‘Hard’ and ‘soft’ principles defining the structure, function and regulation of keratin intermediate filaments
Keratin filaments are crucial for cell structure and protection, with ongoing discoveries about their genes and functions.
research WRKY transcription factors (TFs): Molecular switches to regulate drought, temperature, and salinity stresses in plants
WRKY transcription factors help plants manage stress and support growth.