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.
Search
for
Sort by
Research
30 / 1000+ results
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity
The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
research Transcriptome Profile at Different Physiological Stages Reveals Potential Mode for Curly Fleece in Chinese Tan Sheep
Genetic differences between young and old Tan sheep explain why their fleece changes from curly to straight as they age.
research Unlocking the genetic secrets of Dorper sheep: insights into wool shedding and hair follicle development
Dorper sheep's wool shedding is linked to specific genes and pathways, which may help understand human hair growth.
research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear
Ptprq has multiple forms that change during inner ear development.
research Integrative analysis of Iso-Seq and RNA-seq data reveals transcriptome complexity and differential isoform in skin tissues of different hair length Yak
Different genes affect hair length in yaks.
research A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
research Co-expression of PADI isoforms during progenitor differentiation enables functional diversity
Different PADI isoforms help cells develop diverse functions.
research Careless talk costs lives: fibroblast growth factor receptor signalling and the consequences of pathway malfunction
Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
research Pharmacology of different progestogens: the special case of drospirenone
Drospirenone is a unique progestin with anti-water retention and potential blood pressure benefits, used in birth control and hormone therapy.
research The Paradox of p53: What, How, and Why?
The p53 protein has complex, sometimes contradictory functions, including tumor suppression and promoting cell survival.
research Wound healing in development
Wounds heal without scarring in early development but later result in scars, and studying Wnt signaling could help control scarring.
research Ectopic Expression of a Truncated Isoform of Hair Keratin 81 in Breast Cancer Alters Biophysical Characteristics to Promote Metastatic Propensity
A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.
research 223 Canonical and Dominant Negative Peroxisome Proliferator-Activated Receptor γ Isoforms are Differentially Expressed in Human Skin and Skin Appendages
Different types of PPARγ are found in varying amounts in human skin and its parts, which could affect how skin treatments work.
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 Novel insights into the molecular mechanisms underlying generalized glucocorticoid resistance and hypersensitivity syndromes
Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
research The expression of equine keratins K42 and K124 is restricted to the hoof epidermal lamellae of Equus caballus
K42 and K124 keratins are only found in horse hoof lamellae.
research Induction of versican by ascorbic acid 2-phosphate in dermal papilla cells
Vitamin C derivative increases versican in cells, potentially aiding hair growth.
research Prolactin Signaling Influences the Timing Mechanism of the Hair Follicle: Analysis of Hair Growth Cycles in Prolactin Receptor Knockout Mice*
Prolactin affects when mice shed and grow hair.
research Modulation of Photoaging-Induced Cutaneous Elastin: Evaluation of Gene and Protein Expression of Markers Related to Elastogenesis Under Different Photoexposure Conditions
UV exposure accelerates skin aging by altering elastin, leading to wrinkles.
research Prolactin Signaling Influences the Timing Mechanism of the Hair Follicle: Analysis of Hair Growth Cycles in Prolactin Receptor Knockout Mice
Prolactin affects when mice shed and grow hair.
research Expression and Cellular Localization of Keratinocyte Growth Factor and Its Receptor in Human Hyperplastic Prostate Tissue1
KGF and its receptor are found in enlarged prostate tissue and KGF strongly increases cell growth.
research p63: a crucial player in epithelial stemness regulation
p63 is essential for controlling epithelial stem cells and tissue health.
research Gap junctions in Turing-type periodic feather pattern formation
Gap junctions help control feather pattern formation in chickens.
research Multifaceted roles of superoxide dismutases (SODs) in cellular homeostasis and cancer progression: Redox regulation and therapeutic implications
Superoxide dismutases help balance cell stress and may aid cancer treatment.
research Ontogenetic Transition in Fetal Wound Transforming Growth Factor-β Regulation Correlates with Collagen Organization
Fetal wound healing changes with development, affecting inflammation and collagen, which may influence scarring.
research Thyroid hormones and androgens differentially regulate gene expression in testes and ovaries of sexually mature Silurana tropicalis
Thyroid hormones and androgens affect gene expression in frog reproductive organs differently between males and females.
research Protein kinase C is a key target for attenuation of Leigh syndrome by rapamycin
Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
research 874 Elevated expression of osteopontin splice variants in nonmelanoma skin cancer compared to normal skin and adult keratinocytes
Nonmelanoma skin cancers have higher levels of certain osteopontin variants than normal skin.