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Sökning: WFRF:(Raas Rothschild A) > (2020) > Enhanced Collagen D...

Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy

van Rijn, Jorik M. (författare)
Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Utrecht Univ UU, Univ Med Ctr Utrecht UMCU, Wilhelmina Childrens Hosp, Div Pediat,Dept Pediat Gastroenterol, NL-3584 CT Utrecht, Netherlands.;UU, UMCU, Regenerat Med Ctr, NL-3584 CT Utrecht, Netherlands.
Werner, Lael (författare)
Sheba Med Ctr, Edmond & Lily Safra Childrens Hosp, Pediat Gastroenterol Unit, IL-5262100 Ramat Gan, Israel.;Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel.
Aydemir, Yusuf (författare)
Eskisehir Osmangazi Univ, Fac Med, Dept Pediat, Div Pediat Gastroenterol & Hepatol, TR-26040 Eskisehir, Turkey.
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Spronck, Joey M. A. (författare)
Utrecht Univ UU, Univ Med Ctr Utrecht UMCU, Wilhelmina Childrens Hosp, Div Pediat,Dept Pediat Gastroenterol, NL-3584 CT Utrecht, Netherlands.;UU, UMCU, Regenerat Med Ctr, NL-3584 CT Utrecht, Netherlands.
Pode-Shakked, Ben (författare)
Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel.;Sheba Med Ctr, Edmond & Lily Safra Childrens Hosp, Inst Rare Dis, IL-5262100 Ramat Gan, Israel.;Sheba Med Ctr, Talpiot Med Leadership Program, IL-5262100 Ramat Gan, Israel.
van Hoesel, Marliek (författare)
Utrecht Univ UU, Univ Med Ctr Utrecht UMCU, Wilhelmina Childrens Hosp, Div Pediat,Dept Pediat Gastroenterol, NL-3584 CT Utrecht, Netherlands.;UU, UMCU, Regenerat Med Ctr, NL-3584 CT Utrecht, Netherlands.
Shimshoni, Elee (författare)
Weizmann Inst Sci, Dept Biol Regulat, IL-7610001 Rehovot, Israel.
Polak-Charcon, Sylvie (författare)
Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel.;Sheba Med Ctr, Inst Pathol, IL-5262100 Ramat Gan, Israel.
Talmi, Liron (författare)
Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel.;Sheba Med Ctr, Edmond & Lily Safra Childrens Hosp, Pediat Dept A, IL-5262100 Ramat Gan, Israel.
Eren, Makbule (författare)
Eskisehir Osmangazi Univ, Fac Med, Dept Pediat, Div Pediat Gastroenterol & Hepatol, TR-26040 Eskisehir, Turkey.;Ulus Liv Hosp, Dept Pediat, Div Gastroenterol Hepatol & Nutr, TR-34340 Istanbul, Turkey.
Weiss, Batia (författare)
Sheba Med Ctr, Edmond & Lily Safra Childrens Hosp, Pediat Gastroenterol Unit, IL-5262100 Ramat Gan, Israel.;Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel.
Houwen, Roderick H. J. (författare)
Utrecht Univ UU, Univ Med Ctr Utrecht UMCU, Wilhelmina Childrens Hosp, Div Pediat,Dept Pediat Gastroenterol, NL-3584 CT Utrecht, Netherlands.
Barshack, Iris (författare)
Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel.;Sheba Med Ctr, Inst Pathol, IL-5262100 Ramat Gan, Israel.
Somech, Raz (författare)
Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel.;Sheba Med Ctr, Edmond & Lily Safra Childrens Hosp, Pediat Dept A, IL-5262100 Ramat Gan, Israel.;Sheba Med Ctr, Edmond & Lily Safra Childrens Hosp, Immunol Serv, IL-5262100 Ramat Gan, Israel.;Sheba Med Ctr, Edmond & Lily Safra Childrens Hosp, Jeffrey Modell Fdn Ctr, IL-5262100 Ramat Gan, Israel.
Nieuwenhuis, Edward E. S. (författare)
Utrecht Univ UU, Univ Med Ctr Utrecht UMCU, Wilhelmina Childrens Hosp, Div Pediat,Dept Pediat Gastroenterol, NL-3584 CT Utrecht, Netherlands.
Sagi, Irit (författare)
Weizmann Inst Sci, Dept Biol Regulat, IL-7610001 Rehovot, Israel.
Raas-Rothschild, Annick (författare)
Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel.;Sheba Med Ctr, Edmond & Lily Safra Childrens Hosp, Inst Rare Dis, IL-5262100 Ramat Gan, Israel.
Middendorp, Sabine (författare)
Utrecht Univ UU, Univ Med Ctr Utrecht UMCU, Wilhelmina Childrens Hosp, Div Pediat,Dept Pediat Gastroenterol, NL-3584 CT Utrecht, Netherlands.;UU, UMCU, Regenerat Med Ctr, NL-3584 CT Utrecht, Netherlands.
Shouval, Dror S. (författare)
Sheba Med Ctr, Edmond & Lily Safra Childrens Hosp, Pediat Gastroenterol Unit, IL-5262100 Ramat Gan, Israel.;Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel.
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 (creator_code:org_t)
2020-11-02
2020
Engelska.
Ingår i: International Journal of Molecular Sciences. - : MDPI AG. - 1661-6596 .- 1422-0067. ; 21:21
Relaterad länk:
https://doi.org/10.3...
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https://uu.diva-port... (primary) (Raw object)
https://www.mdpi.com...
https://urn.kb.se/re...
https://doi.org/10.3...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Hyaline fibromatosis syndrome (HFS), resulting from ANTXR2 mutations, is an ultra-rare disease that causes intestinal lymphangiectasia and protein-losing enteropathy (PLE). The mechanisms leading to the gastrointestinal phenotype in these patients are not well defined. We present two patients with congenital diarrhea, severe PLE and unique clinical features resulting from deleterious ANTXR2 mutations. Intestinal organoids were generated from one of the patients, along with CRISPR-Cas9 ANTXR2 knockout, and compared with organoids from two healthy controls. The ANTXR2-deficient organoids displayed normal growth and polarity, compared to controls. Using an anthrax-toxin assay we showed that the c.155C>T mutation causes loss-of-function of ANTXR2 protein. An intrinsic defect of monolayer formation in patient-derived or ANTXR2(KO) organoids was not apparent, suggesting normal epithelial function. However, electron microscopy and second harmonic generation imaging showed abnormal collagen deposition in duodenal samples of these patients. Specifically, collagen VI, which is known to bind ANTXR2, was highly expressed in the duodenum of these patients. In conclusion, despite resistance to anthrax-toxin, epithelial cell function, and specifically monolayer formation, is intact in patients with HFS. Nevertheless, loss of ANTXR2-mediated signaling leads to collagen VI accumulation in the duodenum and abnormal extracellular matrix composition, which likely plays a role in development of PLE.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)

Nyckelord

protein losing enteropathy
intestinal lymphangiectasia
organoids
extracellular matrix
ANTXR2
CMG2

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