#ift140 - Twitter Hashtag

almost 2 years ago

Importance of #IFT140 in Patients with #Polycystic #KidneyDisease Without a Family History #VisualAbstract by @Husamjz https://t.co/rlVp40p4zg

KIReports's tweet photo. Importance of #IFT140 in Patients with #Polycystic #KidneyDisease Without a Family History

#VisualAbstract by @Husamjz

https://t.co/rlVp40p4zg https://t.co/P8HmBmhRhu

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American Society of Pediatric Nephrology @ASPNeph

about 2 years ago

Importance of #IFT140 in Patients with Polycystic Kidney Disease Without a Family History @KIReports #openaccess #PKD #renalcysts https://t.co/kX5mvHeGfM

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@CKD_ce

@ckd_ce

over 3 years ago

6b) Answer is C. In addition to PKD1 and PKD2, mutations in other genes, such as IFT140 (third most common cause of renal cystic disease), GANAB, and others, can also lead to the development of cysts in the kidneys and other organs. #RenalCysticDisease #Genetics #IFT140 #GANAB

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@CKD_ce

@ckd_ce

over 3 years ago

6a) So what is the THIRD most common cause of autosomal dominant polycystic kidney disease (#ADPKD)? A: Mutations in the #PKD2 gene B. Mutations in the #DNAJB11 gene C. Monoallelic mutations in the #IFT140 gene D. Mutations in the #GANAB gene

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@CKD_ce

@ckd_ce

over 3 years ago

9) Monoallelic loss-of-function variants in #IFT140 have been shown to be associated with a mild #ADPKD phenotype characterised by large cysts, mild #kidney impairment and liver #cysts. See 🔓 https://t.co/HzACYkEbml

ckd_ce's tweet photo. 9) Monoallelic loss-of-function variants in #IFT140 have been shown to be associated with a mild #ADPKD phenotype characterised by large cysts, mild #kidney impairment and liver #cysts.
See 🔓 https://t.co/HzACYkEbml https://t.co/9ngfPOVbtU

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@CKD_ce

@ckd_ce

over 3 years ago

8b) @Kidney_Tom utilised kidney #organoids to show that biallelic variants in #IFT140 were associated with short club-like cilia.

ckd_ce's tweet photo. 8b) @Kidney_Tom utilised kidney #organoids to show that biallelic variants in #IFT140 were associated with short club-like cilia. https://t.co/grpCbad44o

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@CKD_ce

@ckd_ce

over 3 years ago

8a) #IFT140 is a core component of the intraflagellar transport complex A, involved in retrograde ciliary trafficking. Biallelic variants are associated with #nephronophthisis.

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@CKD_ce

@ckd_ce

over 3 years ago

7) Rarely, #ADPKD is due to pathogenic variants in other genes, including: 🧬 #GANAB 🧬 #DNAJB11 🧬 #IFT140 See 🔓https://t.co/lJ0xN9fF6B

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@CKD_ce

@ckd_ce

over 3 years ago

19) Other genes less frequently involved in #ADPKD or ADPKD-like phenotypes include #PKD2 (encoding #polycystin 2, 15% cases), #GANAB, #DNAJB11, #ALG5, #ALG9, #IFT140, … See https://t.co/Mm9xOKTJFm

ckd_ce's tweet photo. 19) Other genes less frequently involved in #ADPKD or ADPKD-like phenotypes include #PKD2 (encoding #polycystin 2, 15% cases), #GANAB, #DNAJB11, #ALG5, #ALG9, #IFT140, …
See https://t.co/Mm9xOKTJFm https://t.co/rVJUUig8zZ

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