Results 81 to 90 of about 2,262,684 (231)

The Christianson syndrome protein, sodium hydrogen exchanger isoform 6, is required for fat accumulation

The Journal of Physiology, EarlyView.
Abstract figure legend Nhe6 knockout mice (lower right) show age‐dependent weight loss resulting from lower fat accumulation in adipocytes, similar to Christianson's syndrome patients with NHE6 loss of function mutations. NHE6 is a Na+/H+ exchanger that regulates endosomal pH (pHendo) required for delivery of cargo, including fat and glucose ...
Ruby Gupta, Allatah X. Mekile, Rachana L. Patnayak, Monish Ram Makena, Ray Wesley Bowman II, Cory J. White, Damaris N. Lorenzo, Rajini Rao   +7 more
wiley   +1 more source

Denosumab improves clinical manifestations of hypophosphatemic osteomalacia by adefovir-induced Fanconi syndrome: a case report

Journal of Medical Case Reports, 2019
Background Adefovir dipivoxil is a nucleotide analogue that is approved for treatment of chronic hepatitis B. Adefovir dipivoxil is associated with proximal tubular dysfunction, resulting in Fanconi syndrome, which can cause secondary hypophosphatemic ...
Tomohisa Kunii, Toshie Iijima, Teruo Jojima, Masanori Shimizu, Masato Kase, Shintaro Sakurai, Takahiko Kogai, Isao Usui, Yoshimasa Aso   +8 more
doaj   +1 more source

L’anémie de Fanconi : gènes et fonction(s) revisités [PDF]

, 2005
Des mutations dans les gènes FANC sont responsables de l’anémie de Fanconi (AF), une maladie génétique de phénotype complexe incluant une pancytopénie, des malformations congénitales et une prédisposition élevée au cancer.
Moustacchi, Ethel, Papadopoulo, Dora
core   +1 more source

Germ cell and other tumors in individuals with differences in sex development

CA: A Cancer Journal for Clinicians, EarlyView.
Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel, Miguel Reyes‐Múgica   +1 more
wiley   +1 more source

Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 Gene

Haseki Tıp Bülteni, 2019
Fanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usually diagnosed at 6-10 months of age.
Ezgi Çelikboya, Mehmet Şerif Cansever, Tanyel Zübarioğlu, Gözde Yeşil, Nurver Akıncı   +4 more
doaj   +1 more source

Hemorrhagic Cystitis Following Hematopoietic Stem Cell Transplantation in Children: A Single Pediatric Center Experience

Pediatric Blood &Cancer, Volume 72, Issue 12, December 2025.
ABSTRACT Background Hemorrhagic cystitis (HC) is a frequent and potentially severe complication following hematopoietic stem cell transplantation (HSCT) in children. It significantly affects the quality of life and prolongs hospitalization. Despite its frequency, no standardized management guidelines exist.
Pauline Mazilier, Laurence Dedeken, Eleonore Powis, Pierluigi Calò, Stéphane Luyckx, Laure Kornreich, Safiatou Diallo, Adriano Salaroli, Christine Devalck   +8 more
wiley   +1 more source

DNA repair biomarkers XPF and phospho-MAPKAP kinase 2 correlate with clinical outcome in advanced head and neck cancer. [PDF]

, 2014
BackgroundInduction chemotherapy is a common therapeutic option for patients with locoregionally-advanced head and neck cancer (HNC), but it remains unclear which patients will benefit. In this study, we searched for biomarkers predicting the response of
Cohen, Ezra EW, Farrow, Allan D, Finn, Stephen, Heitmann, Jana, Lingen, Mark W, O'Regan, Esther, Seiwert, Tanguy Y, Sprott, Kam, Stenson, Kerstin, Villegas-Bergazzi, Vivian, Vokes, Everett E, Wang, XiaoZhe, Weaver, David T, Weichselbaum, Ralph R   +13 more
core   +4 more sources

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

LINE‐1 Retroelement Activation and Neuroinflammation in Persons With Fanconi Anemia

Pediatric Blood &Cancer, Volume 72, Issue 12, December 2025.
ABSTRACT We describe the first immunohistochemical analysis performed on brain lesion biopsies from two young individuals with Fanconi anemia neuroinflammatory syndrome (FANS). We identified aberrant activation of the LINE‐1 retrotransposon as a novel mechanism of neuroinflammation in individuals with hematological disorders.
Allison L. Bartlett, Kristie N. Ramos, Jamen R. Bartlett, Kenneth S. Ramos, Nathan Luebbering, Kasiani C. Myers, Parinda A. Mehta, Stella M. Davies   +7 more
wiley   +1 more source

Preventing hereditary cancers caused by opportunistic carcinogens [PDF]

, 2011
Objectives Previous studies reported inherited BRCA1/2 deficits appear to cause cancer by impairing normal protective responses to some carcinogens.
Bernard Friedenson
core   +2 more sources