ProgRET
@progret2024.bsky.social
European Training Program for 10 brilliant PhD students to Understand, Diagnose and Treat Autosomal Dominant Retinal Diseases
In autosomal dominant inheritance, just one defective gene can cause a condition. Key mechanisms:
Dominant Negative: Faulty protein disrupts the normal one.
Gain of Function: Mutant protein gains toxic function.
Haploinsufficiency: One copy isn’t enough for normal function.
Stay tuned for more !
Dominant Negative: Faulty protein disrupts the normal one.
Gain of Function: Mutant protein gains toxic function.
Haploinsufficiency: One copy isn’t enough for normal function.
Stay tuned for more !
June 28, 2025 at 7:34 PM
In autosomal dominant inheritance, just one defective gene can cause a condition. Key mechanisms:
Dominant Negative: Faulty protein disrupts the normal one.
Gain of Function: Mutant protein gains toxic function.
Haploinsufficiency: One copy isn’t enough for normal function.
Stay tuned for more !
Dominant Negative: Faulty protein disrupts the normal one.
Gain of Function: Mutant protein gains toxic function.
Haploinsufficiency: One copy isn’t enough for normal function.
Stay tuned for more !
Autosomal dominant IRD accounts for 25-40% of cases, posing challenges due to variable phenotypes, milder forms, and later onset. Mutations are categorized as gain-of-function, dominant-negative, or haploinsufficiency. Stay tuned as we explore these mechanisms further!
January 31, 2025 at 2:27 PM
Autosomal dominant IRD accounts for 25-40% of cases, posing challenges due to variable phenotypes, milder forms, and later onset. Mutations are categorized as gain-of-function, dominant-negative, or haploinsufficiency. Stay tuned as we explore these mechanisms further!