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1970 1
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90 results

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Page 1
Mulibrey nanism and immunological complications: a comprehensive case report and literature review.
Gazzin A, Pala F, Bosticardo M, Niemela J, Stoddard J, Biasin E, Quarello P, Carli D, Ferroni F, Delmonte OM, Montin D, Rosenzweig SD, Licciardi F, Notarangelo LD. Gazzin A, et al. Front Immunol. 2023 Dec 5;14:1303251. doi: 10.3389/fimmu.2023.1303251. eCollection 2023. Front Immunol. 2023. PMID: 38116000 Free PMC article. Review.
INTRODUCTION: Mulibrey nanism (MUL) is a rare disorder caused by TRIM37 gene variants characterized by growth failure, dysmorphic features, congestive heart failure (CHF), and an increased risk of Wilms' tumor. ...
INTRODUCTION: Mulibrey nanism (MUL) is a rare disorder caused by TRIM37 gene variants characterized by growth failure, dysmorp …
The TRIM37 variants in Mulibrey nanism patients paralyze follicular helper T cell differentiation.
Gu W, Zhang J, Li Q, Zhang Y, Lin X, Wu B, Yin Q, Sun J, Lu Y, Sun X, Jia C, Li C, Zhang Y, Wang M, Yin X, Wang S, Xu J, Wang R, Zhu S, Cheng S, Chen S, Liu L, Zhu L, Yan C, Yi C, Li X, Lian Q, Lin G, Ling Z, Ma L, Zhou M, Xiao K, Wei H, Hu R, Zhou W, Ye L, Wang H, Li J, Sun B. Gu W, et al. Cell Discov. 2023 Aug 1;9(1):82. doi: 10.1038/s41421-023-00561-z. Cell Discov. 2023. PMID: 37528081 Free PMC article.
Here, we revealed that TRIM37 variants were associated with recurrent infection. Trim37 FIN(major) (a representative variant of Mulibrey nanism patients) and Trim37 knockout mice were susceptible to influenza virus infection. ...Collectively, these findings highligh …
Here, we revealed that TRIM37 variants were associated with recurrent infection. Trim37 FIN(major) (a representative variant of Mulibrey …
Mulibrey nanism--a novel peroxisomal disorder.
Kallijärvi J, Lehesjoki AE, Lipsanen-Nyman M. Kallijärvi J, et al. Adv Exp Med Biol. 2003;544:31-7. doi: 10.1007/978-1-4419-9072-3_3. Adv Exp Med Biol. 2003. PMID: 14713209 Review. No abstract available.
Wilms tumor with Mulibrey Nanism: A case report and review of literature.
Upasana K, Thakkar D, Gautam D, Sachdev MS, Yadav A, Kapoor R, Raghunathan V, Dhaliwal MS, Bhargava K, Nair S, Sharma J, Rastogi N, Yadav SP. Upasana K, et al. Cancer Rep (Hoboken). 2022 May;5(5):e1512. doi: 10.1002/cnr2.1512. Epub 2021 Jul 26. Cancer Rep (Hoboken). 2022. PMID: 34309235 Free PMC article. Review.
BACKGROUND: Mulibrey-Nanism (Muscle-liver-brain-eye Nanism = dwarfism; MUL) is a rare genetic syndrome. ...
BACKGROUND: Mulibrey-Nanism (Muscle-liver-brain-eye Nanism = dwarfism; MUL) is a rare genetic syndrome. ...
TRIMming down to TRIM37: Relevance to Inflammation, Cardiovascular Disorders, and Cancer in MULIBREY Nanism.
Brigant B, Metzinger-Le Meuth V, Rochette J, Metzinger L. Brigant B, et al. Int J Mol Sci. 2018 Dec 24;20(1):67. doi: 10.3390/ijms20010067. Int J Mol Sci. 2018. PMID: 30586926 Free PMC article. Review.
TRIM37 is characterized by the presence of a RING domain, B-box motifs, and a coiled-coil region, and its C-terminal part includes the MATH domain specific to TRIM37. MULIBREY nanism is a rare autosomal recessive caused by TRIM37 mutations and characterized by sever …
TRIM37 is characterized by the presence of a RING domain, B-box motifs, and a coiled-coil region, and its C-terminal part includes the MATH …
Mulibrey Nanism: A Case with Heart Failure.
Temizhan AY, Çolakoğlu MN, Kara M, Köprücü E, Korkmaz A, Topaloğlu S, Altay FP, Köroğlu EY, Erbahçeci Timur İE, Uğurlu N, Temizhan A. Temizhan AY, et al. Turk Kardiyol Dern Ars. 2024 Sep;52(6):464-467. doi: 10.5543/tkda.2023.95443. Turk Kardiyol Dern Ars. 2024. PMID: 39225643 Free article. English.
Mulibrey Nanism is a rare genetic disorder characterized by a variety of systemic manifestations, including cardiac involvement. ...Examination revealed dysmorphic features characteristic of Mulibrey Nanism such as short stature, macrocephaly, and hype …
Mulibrey Nanism is a rare genetic disorder characterized by a variety of systemic manifestations, including cardiac involvemen …
Mulibrey Nanism Syndrome: A Case for Heart Transplantation.
Anwer M, Bin Mahmood SU, Stawiarski K, Elder R, Ali A, Jacoby D. Anwer M, et al. Ann Thorac Surg. 2020 Feb;109(2):e115-e117. doi: 10.1016/j.athoracsur.2019.05.021. Epub 2019 Jun 28. Ann Thorac Surg. 2020. PMID: 31260650
Mulibrey nanism syndrome is a rare genetic disorder affecting multiple organ systems. ...We highlight the use of cardiac transplantation as a definitive management for a hemodynamically decompensated patient with Mulibrey nanism syndrome....
Mulibrey nanism syndrome is a rare genetic disorder affecting multiple organ systems. ...We highlight the use of cardiac trans …
Mulibrey nanism.
Balg S, Stengel-Rutkowski S, Döhlemann C, Boergen K. Balg S, et al. Clin Dysmorphol. 1995 Jan;4(1):63-9. Clin Dysmorphol. 1995. PMID: 7735507
Investigation of a 4-year-old boy with 'Russell-Silver-phenotype' led to the relatively rare diagnosis of Mulibrey nanism. Subsequently cardiac investigation confirmed a constrictive pericarditis which is characteristic of this syndrome, although not included in the …
Investigation of a 4-year-old boy with 'Russell-Silver-phenotype' led to the relatively rare diagnosis of Mulibrey nanism. Sub …
Renal findings in patients with Mulibrey nanism.
Sivunen J, Karlberg S, Lohi J, Karlberg N, Lipsanen-Nyman M, Jalanko H. Sivunen J, et al. Pediatr Nephrol. 2017 Sep;32(9):1531-1536. doi: 10.1007/s00467-017-3669-5. Epub 2017 Apr 22. Pediatr Nephrol. 2017. PMID: 28432469
BACKGROUND: Mulibrey nanism (MUL) is a rare inherited disease caused by genetic defects affecting peroxisomal TRIM37 protein. ...
BACKGROUND: Mulibrey nanism (MUL) is a rare inherited disease caused by genetic defects affecting peroxisomal TRIM37 protein. …
The Importance of Early Pericardiectomy in Mulibrey Nanism Syndrome, a Case Report.
Cordova Sanchez A, Vasigh M, Carhart R. Cordova Sanchez A, et al. J Investig Med High Impact Case Rep. 2022 Jan-Dec;10:23247096221077816. doi: 10.1177/23247096221077816. J Investig Med High Impact Case Rep. 2022. PMID: 35257621 Free PMC article.
Mulibrey (Muscle-Liver-Brain-Eye) Nanism syndrome is an extremely rare genetic disorder with multiorgan involvement. Constrictive pericarditis and diastolic dysfunction are the most common causes of mortality. We present a case of a patient with Mulibrey n …
Mulibrey (Muscle-Liver-Brain-Eye) Nanism syndrome is an extremely rare genetic disorder with multiorgan involvement. Constrict …
90 results