Results 31 to 40 of about 31,105 (207)

Growth Retardation in the Course of Fanconi Syndrome Caused by the 4977-bp Mitochondrial DNA Deletion: A Case Report

Children, 2021
Fanconi syndrome is one of the primary renal manifestations of mitochondrial cytopathies caused by mitochondrial DNA (mtDNA) mutation. The common 4977-bp mtDNA deletion has been reported to be associated with aging and diseases involving multiple ...
Ting Li, Zhihong Lu, Jingjing Wang, Junyi Chen, Haidong Fu, Jianhua Mao   +5 more
doaj   +1 more source

Cancer incidence in relatives of British Fanconi Anaemia patients.

, 2008
BACKGROUND: Fanconi anemia (FA) is an autosomal recessive DNA repair disorder with affected individuals having a high risk of developing acute myeloid leukaemia and certain solid tumours. Thirteen complementation groups have been identified and the genes
Ball Jan, Mathew, CG, Tischkowitz, Marc, Hodgson, SV, Hodgson Shirley V, Tischkowitz Marc, Easton, DF, Ball, J, Mathew Christopher G, Mathew, Christopher G.; id_orcid, Tischkowitz, M, Easton Douglas F, Ball, Jan, Hodgson, Shirley V., Easton, Douglas F.   +14 more
core   +1 more source

Acquired Fanconi Syndrome from Tenofovir Treatment in a Patient with Hepatitis B

Case Reports in Hepatology, 2023
Fanconi syndrome is a rare disease of generalized proximal tubule dysfunction which can be acquired secondary to certain medications, including tenofovir, a commonly used hepatitis B treatment.
Shirley X. Jiang, John Duncan, Hin Hin Ko   +2 more
doaj   +1 more source

Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy

Cell Reports, 2016
Summary: We recently reported an autosomal dominant form of renal Fanconi syndrome caused by a missense mutation in the third codon of the peroxisomal protein EHHADH.
Nadine Assmann, Katja Dettmer, Johann M.B. Simbuerger, Carsten Broeker, Nadine Nuernberger, Kathrin Renner, Holly Courtneidge, Enriko D. Klootwijk, Axel Duerkop, Andrew Hall, Robert Kleta, Peter J. Oefner, Markus Reichold, Joerg Reinders   +13 more
doaj   +1 more source

Hypomorphic Mutations in the Central Fanconi Anemia Gene FANCD2 Sustain a Significant Group of FA-D2 Patients with Severe Phenotype. Running title : FA-D2 phenotype and FANCD2 mutations

, 2007
Premi a l'excel·lència investigadora. Àmbit de les Ciències de la Salut. 2008FANCD2 is an evolutionarily conserved Fanconi anemia (FA) gene that plays a central role in DNA double-strand type damage responses.
Detlev Schindler, Casado, José A., Surrallés, Jordi, Bueren, Juan, Schindler, Detlev, Arleen D. Auerbach, Holger Hoehn, Schneider, Hildegard, Kornelia Neveling, Elsa Callén, Kalba, Reinhard, Berwick, Marianne, Jean Soulier, Hunt, Curtis, Pals, Gerard, Rosalina van Spaendonk, Gluckman, Eliane, Callén Moréu, Elsa, Joenje, Hans, Kalb, Reinhard, Batish, Sat Dev, Soulier, Jean, Juan Bueren, Hanenberg, Helmut, Helmut Hanenberg, C. Michel Zwaan, Linka, Yvonne, Winter, Johan P. de, Eliane Gluckman, Neveling, Kornelia, Yvonne Linka, Hans Joenje, Markus Grompe, Johan P. de Winter, Grompe, Markus, Zwaan, C. Michel, Surrallés i Calonge, Jordi, Reinhard Kalb, Hoehn, Holger, Auerbach, Arleen D., Jordi Surrallés, Ángeles Dasí, de Winter, Johan P., Dasí, Ángeles, Marianne Berwick, José A. Casado, Sat Dev Batish, Curtis Hunt, Van Spaendonk, Rosalina, Callén, Elsa, Hildegard Schneider, Batishb, Sat Dev, Gerard Pals   +52 more
core   +1 more source

G6PC Downregulation Promotes Renal Calcium Oxalate Stone Formation via Lactate‐Induced SNAIL1 K206 Lactylation and Epithelial‐Mesenchymal Transition

Advanced Science, EarlyView.
In renal calcium oxalate stone formation, G6PC downregulation leads to lactate accumulation. This lactate mediates CBP/p300‐dependent lactylation of SNAIL1 at K206, promoting its nuclear translocation. Nuclear SNAIL1 activates the TGF‐β/SMAD3 pathway, driving epithelial‐mesenchymal transition and fibrosis, which ultimately facilitates crystal ...
Kai Liu, Boming Zhang, Ruixin Fan, Chen Duan, Yangjun Zhang, Huahui Wu, Xiangyang Yao, Xiongmin Mao, Bo Li, Youmiao Zeng, Zhenzhen Xu, Yang Wang, Mengcheng Luo, Xinyu Xu, Ninghan Feng, Heng Li, Hua Xu   +16 more
wiley   +1 more source

A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period

, 2019
Fanconi Bickel Syndrome (FBS), also known as glycogen storage disease Type XI, is a rare autosomal recessive disorder. This syndrome has many different identified mutations and it is rarely diagnosed during the neonatal period.
Erkin Serdaroğlu, Şebnem Çalkavur, Şükran Keskin Gözmen, Kıymet Çelik   +3 more
core   +1 more source

Ifosfamide-induced Fanconi syndrome with diabetes insipidus [PDF]

, 2014
Ifosfamide-induced Fanconi syndrome is a rare complication that typically occurs in young patients due to a cumulative dose of ifosfamide > 40-60 g/
M.D. Hyo Song Kim, Byung Han Sang Kim, Deul Kang, Ah Young Leem, Beo Woo Yoo, Sun Young Rha, Hyo Song Kim, Min Hwan Kim   +7 more
core   +2 more sources

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Transient Fanconi syndrome with severe polyuria and polydipsia in a 4-year old Shih Tzu fed chicken jerky treats.

, 2014
Acquired Fanconi syndrome is characterized by inappropriate urinary loss of amino acids, bicarbonate, electrolytes, and water. It has recently been described in dogs fed chicken jerky treats from China, a new differential diagnosis to the classical ...
Francey, Thierry, Hinden, Sandro, Major, Andrea, Schweighauser, Ariane   +3 more
core   +1 more source