research Alopecia in Harlequin mutant mice is associated with reduced AIF protein levels and expression of retroviral elements
Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
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research A glutathione-dependent control of the indole butyric acid pathway supports Arabidopsis root system adaptation to phosphate deprivation
Glutathione helps Arabidopsis roots adapt to low phosphate by regulating a specific growth pathway.
research Early prediction of alopecia areata using machine learning modeling of neuro stress immune signatures from multi datasets
A machine learning model can predict alopecia areata early using specific gene markers.
research Multi-omics empowered deep phenotyping of ulcerative colitis
Ulcerative colitis involves immune activation, chronic inflammation, and metabolic issues, some of which persist even during remission.
research Research progress on mechanisms of skin aging and anti-aging strategies
Personalized anti-aging strategies are important, considering genetics and lifestyle.
research Tibet Koyun Ovaryumunda Proteinlerin Farklı Ekspresyonu ve Farklı Foliküler Gelişim Aşamalarında Alt Boyut Özellikleriyle İlişkisi
The research improved understanding of twin births and fertility in Tibetan sheep, helping animal farming.
research Functional stem-cell based tissue engineered vascular grafts for high-risk donor populations
Diabetic patients' stem cells make vascular grafts more prone to clots, but new methods may improve grafts.
research Peer Review #2 of "Human hair shaft proteomic profiling: individual differences, site specificity and cuticle analysis (v0.1)"
The research found that people's hair proteins vary, especially by ethnicity and body part, which could help identify individuals in forensic science.
research Peer Review #1 of "Human hair shaft proteomic profiling: individual differences, site specificity and cuticle analysis (v0.1)"
The research found that people's hair proteins vary by individual and body part, with some differences between ethnic groups, which could help in forensics.
research Development of Heritable Melanoma in Transgenic Mice
The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.
research Autophagy Dysfunction: The Kernel of Hair Loss?
Manipulating cell cleanup processes could help treat hair loss.
research Human hair shaft proteomic profiling: individual differences, site specificity and cuticle analysis
Human hair proteins vary by individual, body site, and ethnicity, useful for forensics.
research Multiomics-empowered Deep Phenotyping of Ulcerative Colitis Identifies Biomarker Signatures Reporting Functional Remission States
Microvascular damage and platelet issues persist in ulcerative colitis remission, helping assess disease states.
research Disease Prevention and Alleviation by Human Myoblast Transplantation
Myoblast transplantation shows promise for treating various muscle and heart conditions.
research Two-Stage Machine Learning-Based GWAS for Wool Traits in Central Anatolian Merino Sheep
Machine learning can effectively identify genes to improve wool quality in sheep.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
research Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fzica) mice points to fuzzy as a key element of hair cycle control
The fuzzy gene is crucial for controlling hair growth cycles.
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 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 Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.