Results 71 to 80 of about 1,177,821 (205)

Fanconi–Bickel syndrome in a Ugandan child – diagnostic challenges in resource-limited settings: a case report

Journal of Medical Case Reports, 2020
Background Fanconi–Bickel syndrome is an autosomal recessive disorder of glucose metabolism. It is an extremely rare disorder. Most cases have been reported in consanguineous communities.
Thereza Piloya, Hawa Ssematala, Lydia Paparu Dramani, Oliva Nalikka, Miriam Baluka, Victor Musiime   +5 more
doaj   +1 more source

Ferroptosis: Newly Emerged Regulator for Human Disease

MedComm, Volume 7, Issue 9, September 2026.
Ferroptosis is a key regulated cell death pathway closely involved in cancers, neurodegenerative disorders, acute organ injuries, and cardiovascular and chronic metabolic diseases, representing a promising therapeutic target for diverse human illnesses.
Dandan Xiao, Lin Ye, Tianqi Jiang, Mengyuan Liu, Yuxia Zhou   +4 more
wiley   +1 more source

Fanconi, G. -- 1955-63 -- Correspondence, Individual -- letter, 1963-06-05

, 1963
Letter from Fanconi, G. to Sabin, Albert B.
Grebel Fanconi, Guido von
core   +1 more source

Bilateral anterior uveitis associated with Fanconi syndrome and tubulointerstitial nephritis: A case report and review of literature

Indian Journal of Ophthalmology. Case Reports
Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare inflammatory disease affecting the renal tubules and uveal tract. Although the etiology of TINU remains uncertain, it has been associated with multiple immunologic conditions and human ...
Chellarani Kumarasamy, Aniruddha Agarwal, Ricardo Valjalo   +2 more
doaj   +1 more source

Twisting the End Game: How Telomere Chromatin Modifications Shape Telomere Maintenance

Aging Cell, Volume 25, Issue 9, September 2026.
Chromatin modifications on telomeres are linked to the mode of telomere DNA replication. A coupled feedforward loop model is proposed based on these to lock the ALT cancer cells in this alternative mode of telomere replication. ABSTRACT Cell division inevitably shortens telomeric DNA owing to the end‐replication problem.
Jie Wang, Yuehui Su, Chao Chen, Yueying Li, Jiajia Han, Liping Du, Liyun Zheng, Ya‐Long Dang, Ying Peng   +8 more
wiley   +1 more source

Fanconi-BRCA pathway mutations in childhood T-ALL.

, 2019
(A) Childhood T-ALL diagnostic specimens were analyzed by targeted exon sequencing and array CGH. The percentage of cases with mutations or deletions in each of the Fanconi complexes is shown on a simplified schema of the Fanconi pathway, which functions
Alan D. D’Andrea (7860881), Bjorn Menten (7860866), Lewis B. Silverman (7860869), James Degar (7860842), Melissa A. Burns (7860851), Justine Roderick (7860860), Chau D. Vo (7860848), Bose Kochupurakkal (483270), Alejandro Gutierrez (154345), Mignon L. Loh (1906255), Gayle P. Pouliot (7860839), Laura Hinze (7860845), David M. Weinstock (7860875), Kristen E. Stevenson (7860872), Andrew P. Weng (7860878), Pieter Van Vlierberghe (367942), Lisa Moreau (7860854), Sofie Peirs (7860863), Stephen P. Hunger (5213042), Marian H. Harris (3246978), Chirag Ganesa (7860857)   +20 more
core   +1 more source

Structure of the Human FANCL RING-Ube2T Complex Reveals Determinants of Cognate E3-E2 Selection [PDF]

, 2014
The combination of an E2 ubiquitin-conjugating enzyme with an E3 ubiquitin-ligase is essential for ubiquitin modification of a substrate. Moreover, the pairing dictates both the substrate choice and the modification type. The molecular details of generic
Miles, Jennifer Anne, Hodson, Charlotte, Purkiss, Andrew, Walden, Helen   +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 WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry

Haematologica, 2010
Background Inherited bone marrow failure syndromes are rare genetic disorders characterized by bone marrow failure, congenital anomalies, and cancer predisposition.
Hannah Tamary, Daniella Nishri, Joanne Yacobovich, Rama Zilber, Orly Dgany, Tanya Krasnov, Shraga Aviner, Polina Stepensky, Shoshana Ravel-Vilk, Menachem Bitan, Chaim Kaplinsky, Ayelet Ben Barak, Ronit Elhasid, Joseph Kapelusnik, Ariel Koren, Carina Levin, Dina Attias, Ruth Laor, Isaac Yaniv, Philip S. Rosenberg, Blanche P. Alter   +20 more
doaj   +1 more source