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research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant

April 2026 in “Human Genome Variation”

A study on a patient with IFAP syndrome, characterized by ichthyosis, alopecia, and photophobia, identified a hemizygous intronic variant in the MBTPS2 gene. This variant, previously known to cause a 20-base skipping in exon 7, was further investigated using long-read RNA sequencing. The analysis revealed additional skipping of exons 6 and 7 and a significant reduction in normal transcript expression compared to healthy skin. This highlights the utility of long-read RNA sequencing in identifying diverse transcript isoforms and understanding the impact of splice-altering variants.

research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing

October 2023 in “Psychiatry research. Case reports”

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

25 citations , November 2018 in “Cell reports”

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

55 citations , August 2013 in “PloS one”

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

December 2024 in “Frontiers in Veterinary Science”

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

11 citations , August 2010 in “Developmental neurobiology”

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

5 citations , May 2024 in “BMC Genomics”

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

28 citations , December 1997 in “Journal of Biological Chemistry”

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

2 citations , October 2023 in “Philosophical Transactions of the Royal Society B Biological Sciences”

Different PADI isoforms help cells develop diverse functions.

research Careless talk costs lives: fibroblast growth factor receptor signalling and the consequences of pathway malfunction

119 citations , November 2014 in “Trends in Cell Biology”

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

104 citations , January 2005 in “Climacteric”

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?

64 citations , July 2016 in “Cold Spring Harbor Perspectives in Medicine”

The p53 protein has complex, sometimes contradictory functions, including tumor suppression and promoting cell survival.

Wound Healing in Development: Mechanisms and Regulation

research Wound healing in development

29 citations , September 2012 in “Birth Defects Research”

Wounds heal without scarring in early development but later result in scars, and studying Wnt signaling could help control scarring.

Ectopic Expression of a Truncated Isoform of Hair Keratin 81 in Breast Cancer Alters Biophysical Characteristics to Promote Metastatic Propensity

research Ectopic Expression of a Truncated Isoform of Hair Keratin 81 in Breast Cancer Alters Biophysical Characteristics to Promote Metastatic Propensity

November 2023 in “Advanced Science”

A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.

Canonical and Dominant Negative Peroxisome Proliferator-Activated Receptor Gamma Isoforms Are Differentially Expressed in Human Skin and Skin Appendages

research 223 Canonical and Dominant Negative Peroxisome Proliferator-Activated Receptor γ Isoforms are Differentially Expressed in Human Skin and Skin Appendages

November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

Different types of PPARγ are found in varying amounts in human skin and its parts, which could affect how skin treatments work.

research Novel insights into the molecular mechanisms underlying generalized glucocorticoid resistance and hypersensitivity syndromes

15 citations , April 2017 in “Hormones”

Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.