research Advances in Genetic and Molecular Understanding of Omenn Syndrome: Implications for the Future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
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research ESGCT and FSGT Collaborative Congress Helsinki, Finland September 17–20, 2015 Abstracts
The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
research Investigation of Transcriptional Gene Profiling in Normal Murine Hair Follicular Substructures Using Next-Generation Sequencing to Provide Potential Insights into Skin Disease
Hair follicles have a more inactive cell cycle than other skin cells, which may help develop targeted therapies for skin diseases and cancer.
research Spatiotemporal Expression and Haplotypes Identification of KRT84 Gene and Their Association with Wool Traits in Gansu Alpine Fine-Wool Sheep
The KRT84 gene is linked to better wool quality in Gansu Alpine Fine-wool sheep.
research Case of Autosomal Recessive Woolly Hair/Hypotrichosis with Compound Heterozygous Mutations in the LIPH Gene at c.742C > A and c.614A > G: The First Japanese Case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Recent Advances in Neuropeptide-Related Omics and Gene Editing: Spotlight on NPY and Somatostatin and Their Roles in Growth and Food Intake of Fish
New tools show that in fish, NPY increases feeding and somatostatin decreases it.
research Highlights
Melatonin may help with nerve pain, a hepatitis C drug is effective but has side effects, a treatment for mouth sores works but can cause blood issues, ear reconstruction with an implant is safe, HIV transmission from mother to child in Taiwan is now 0% with treatment, certain blood problems are more common in people with a tongue condition, a gene and being overweight are linked to hair loss in some women, a new technique could reduce radiation for lung nodule patients, a hepatitis treatment may lower cancer recurrence after a procedure, and adding extra screening improves tuberculosis detection in patients with lung infections.
research Measuring the Impact on Quality of Life of Infants with Atopic Dermatitis in a Dedicated Clinic
Atopic dermatitis significantly lowers the quality of life for infants and their families.
research Hair Today
The document concludes that understanding hair biology is key to treating hair disorders, with gene therapy showing potential as a future treatment.
research Molecular Genetics of Androgen Insensitivity
Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
research A Genetic Test for Androgenetic Alopecia: Polymorphisms in the Androgen Receptor Gene Provide a Genetic Screening Test for Androgenetic Alopecia and Earlier Medical Intervention
A genetic test can identify people at risk of male pattern baldness early, allowing for quicker treatment.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research GABRA2 Alleles Moderate the Subjective Effects of Alcohol, Which Are Attenuated by Finasteride
GABRA2 gene variations impact alcohol response, and hair loss medication finasteride reduces some effects.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
research The Slick Hair Coat Locus Maps to Chromosome 20 in Senepol-Derived Cattle
The gene for slick hair in Senepol cattle is located on chromosome 20 and may involve the SRD5A2 gene.
research Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ
Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.
research The Sheep KAP8-2 Gene, A New KAP8 Family Member That Is Absent In Humans
Sheep have a unique gene, KAP8-2, that humans don't have, which may affect wool properties.
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 An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Hairless Plays a Role in Formation of Inner Root Sheath via Regulation of Dlx3 Gene
Hairless protein affects hair follicle structure by regulating the Dlx3 gene.
research Overexpression of Nanog in Amniotic Fluid-Derived Mesenchymal Stem Cells Accelerates Dermal Papilla Cell Activity and Promotes Hair Follicle Regeneration
Nanog gene boosts stem cells, helps hair growth, and may treat hair loss.
research Signal Transducer and Activator of Transcription 5B Deficiency Due to a Novel Missense Mutation in the Coiled-Coil Domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research The Association Between rs2476601 Polymorphism in PTPN22 Gene and Risk of Alopecia Areata
The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
research Polymorphisms in the Promoter Regions of the CXCL1 and CXCL2 Genes Contribute to Increased Risk of Alopecia Areata in the Korean Population
Certain gene variations increase the risk of alopecia areata in Koreans.
research Skin and Hair Abnormalities of Cantu Syndrome: A Congenital Hypertrichosis Due to a Genetic Alteration Mimicking the Pharmacological Effect of Minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research Identification of the Ovine Keratin-Associated Protein 21-1 Gene and Its Association with Variation in Wool Traits
The KRTAP21-1 gene affects wool yield and can help improve wool production.
research Skipping of Exons by Premature Termination of Transcription and Alternative Splicing Within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
research Genetic Susceptibility to Alopecia
Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
research The Mean Staple Length of Wool Fiber Is Associated with Variation in the Ovine Keratin-Associated Protein 21-2 Gene
The KRTAP21-2 gene affects wool length and quality in sheep.