140 related articles for article (PubMed ID: 38281300)
1. A novel biallelic 19-bp deletion in the IL10RB gene caused infant-onset inflammatory bowel disease in a consanguineous family: a molecular docking simulation study and literature review.
Motallebi F; Al Sudani ZM; Vaghefi F; Khosravi T; Rahimzadeh A; Kowsari A; Oladnabi M
Mol Biol Rep; 2024 Jan; 51(1):223. PubMed ID: 38281300
[TBL] [Abstract][Full Text] [Related]
2. Candidiasis associated with very early onset inflammatory bowel disease: First IL10RB deficient case from the National Iranian Registry and review of the literature.
Yazdani R; Moazzami B; Madani SP; Behniafard N; Azizi G; Aflatoonian M; Abolhassani H; Aghamohammadi A
Clin Immunol; 2019 Aug; 205():35-42. PubMed ID: 31096038
[TBL] [Abstract][Full Text] [Related]
3. Second report of TEDC1-related microcephaly caused by a novel biallelic mutation in an Iranian consanguineous family.
Sarli A; Al Sudani ZM; Vaghefi F; Motallebi F; Khosravi T; Rezaie N; Oladnabi M
Mol Biol Rep; 2024 Jan; 51(1):181. PubMed ID: 38252227
[TBL] [Abstract][Full Text] [Related]
4. Very early onset inflammatory bowel disease: Investigation of the IL-10 signaling pathway in Iranian children.
Nemati S; Teimourian S; Tabrizi M; Najafi M; Dara N; Imanzadeh F; Ahmadi M; Aghdam MK; Tavassoli M; Rohani P; Madani SR; de Boer M; Kuijpers TW; Roos D
Eur J Med Genet; 2017 Dec; 60(12):643-649. PubMed ID: 28864178
[TBL] [Abstract][Full Text] [Related]
5. Autosomal recessive 333 base pair interleukin 10 receptor alpha subunit deletion in very early-onset inflammatory bowel disease.
Lv JJ; Su W; Chen XY; Yu Y; Xu X; Xu CD; Deng X; Huang JB; Wang XQ; Xiao Y
World J Gastroenterol; 2021 Nov; 27(44):7705-7715. PubMed ID: 34908808
[TBL] [Abstract][Full Text] [Related]
6. Clinical features of interleukin 10 receptor gene mutations in children with very early-onset inflammatory bowel disease.
Beser OF; Conde CD; Serwas NK; Cokugras FC; Kutlu T; Boztug K; Erkan T
J Pediatr Gastroenterol Nutr; 2015 Mar; 60(3):332-8. PubMed ID: 25373860
[TBL] [Abstract][Full Text] [Related]
7. Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR).
Rahmani F; Rayzan E; Rahmani MR; Shahkarami S; Zoghi S; Rezaei A; Aryan Z; Najafi M; Rohlfs M; Jeske T; Aflatoonian M; Chavoshzadeh Z; Farahmand F; Motamed F; Rohani P; Alimadadi H; Mahdaviani A; Mansouri M; Tavakol M; Vanderberg M; Kotlarz D; Klein C; Rezaei N
Immunol Invest; 2021 May; 50(4):445-459. PubMed ID: 32633164
[TBL] [Abstract][Full Text] [Related]
8. IL-10R polymorphisms are associated with very-early-onset ulcerative colitis.
Moran CJ; Walters TD; Guo CH; Kugathasan S; Klein C; Turner D; Wolters VM; Bandsma RH; Mouzaki M; Zachos M; Langer JC; Cutz E; Benseler SM; Roifman CM; Silverberg MS; Griffiths AM; Snapper SB; Muise AM
Inflamm Bowel Dis; 2013 Jan; 19(1):115-23. PubMed ID: 22550014
[TBL] [Abstract][Full Text] [Related]
9. A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest.
Okutman O; Boivin M; Muller J; Charlet-Berguerand N; Viville S
Hum Reprod; 2023 Feb; 38(2):306-314. PubMed ID: 36524333
[TBL] [Abstract][Full Text] [Related]
10. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
Glocker EO; Kotlarz D; Boztug K; Gertz EM; Schäffer AA; Noyan F; Perro M; Diestelhorst J; Allroth A; Murugan D; Hätscher N; Pfeifer D; Sykora KW; Sauer M; Kreipe H; Lacher M; Nustede R; Woellner C; Baumann U; Salzer U; Koletzko S; Shah N; Segal AW; Sauerbrey A; Buderus S; Snapper SB; Grimbacher B; Klein C
N Engl J Med; 2009 Nov; 361(21):2033-45. PubMed ID: 19890111
[TBL] [Abstract][Full Text] [Related]
11. Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2.
Naghipoor K; Khosravi T; Oladnabi M
Mol Biol Rep; 2023 Sep; 50(9):7427-7435. PubMed ID: 37458870
[TBL] [Abstract][Full Text] [Related]
12. Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.
Haghighi A; Tiwari A; Piri N; Nürnberg G; Saleh-Gohari N; Haghighi A; Neidhardt J; Nürnberg P; Berger W
PLoS One; 2014; 9(11):e112747. PubMed ID: 25392994
[TBL] [Abstract][Full Text] [Related]
13. Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency.
Salzer E; Kansu A; Sic H; Májek P; Ikincioğullari A; Dogu FE; Prengemann NK; Santos-Valente E; Pickl WF; Bilic I; Ban SA; Kuloğlu Z; Demir AM; Ensari A; Colinge J; Rizzi M; Eibel H; Boztug K
J Allergy Clin Immunol; 2014 Jun; 133(6):1651-9.e12. PubMed ID: 24746753
[TBL] [Abstract][Full Text] [Related]
14. [Interleukin-10 receptor mutations in children with neonatal onset inflammatory bowel disease: genetic diagnosis and pathogenesis].
Lu D; Xu Y; Chen Y; Zeng P; Chen H; Zeng H
Zhonghua Er Ke Za Zhi; 2015 May; 53(5):348-54. PubMed ID: 26080664
[TBL] [Abstract][Full Text] [Related]
15. Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds.
Charbit-Henrion F; Bègue B; Sierra A; Hanein S; Stolzenberg MC; Li Z; Pellegrini S; Garcelon N; Jeanpierre M; Neven B; Loge I; Picard C; Rosain J; Bustamante J; Le Lorc'h M; Pigneur B; Fernandes A; ; Rieux-Laucat F; Amil Dias J; Ruemmele FM; Cerf-Bensussan N
PLoS One; 2018; 13(10):e0205826. PubMed ID: 30365510
[TBL] [Abstract][Full Text] [Related]
16. Genetic association and epistatic interaction of the interleukin-10 signaling pathway in pediatric inflammatory bowel disease.
Lin Z; Wang Z; Hegarty JP; Lin TR; Wang Y; Deiling S; Wu R; Thomas NJ; Floros J
World J Gastroenterol; 2017 Jul; 23(27):4897-4909. PubMed ID: 28785144
[TBL] [Abstract][Full Text] [Related]
17. Comprehensive mutation screening for 10 genes in Chinese patients suffering very early onset inflammatory bowel disease.
Xiao Y; Wang XQ; Yu Y; Guo Y; Xu X; Gong L; Zhou T; Li XQ; Xu CD
World J Gastroenterol; 2016 Jun; 22(24):5578-88. PubMed ID: 27350736
[TBL] [Abstract][Full Text] [Related]
18. A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.
Jelani M; Kang C; Mohamoud HS; Al-Rehaili R; Almramhi MM; Serafi R; Yang H; Al-Aama JY; Naeem M; Alkhiary YM
Arch Oral Biol; 2016 Jul; 67():28-33. PubMed ID: 27019138
[TBL] [Abstract][Full Text] [Related]
19. Valuable clinical indicators for identifying infantile-onset inflammatory bowel disease patients with monogenic diseases.
Su W; Yu Y; Xu X; Wang XQ; Huang JB; Xu CD; Xiao Y
World J Gastroenterol; 2021 Jan; 27(1):92-106. PubMed ID: 33505153
[TBL] [Abstract][Full Text] [Related]
20. Clinical and cellular phenotypes resulting from a founder mutation in IL10RB.
Mao Z; Betti MJ; Cedeno MA; Pedroza LA; Basaria S; Liu Q; Choi JM; Markle JG
Clin Exp Immunol; 2024 Apr; 216(2):113-119. PubMed ID: 37503744
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
