Results 71 to 80 of about 2,262,684 (231)

Drug-induced metabolic acidosis [PDF]

, 2017
Summary: Drug causes of metabolic acidosis are numerous and their mechanisms are diverse. Broadly, they can cause metabolic acidosis with either a normal anion gap (e.g. drug-induced renal tubular acidosis) or an elevated anion gap (e.g.
Boton, Burdett, Burges, Dragovic, Fenves, Figge, Gerbaud, Hunter, Hussain, Kam, Karet, Knights, Kraut, Lee, Mirza, Oh, O’Connell, Peters, Porras, Reddi, Reyes, Robergs, Roscoe, Salpeter, Sawaya, Skinner, Soriano, Stewart, Tsao, Viollet, Walsh, Yombi, Yunos, Zamlauski-Tucker   +33 more
core   +1 more source

Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health

Clinical Genetics, EarlyView.
In 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Luiza Beatriz Mayer de Lima, Eduardo Delabio Auer, Isabela Dall’Oglio Bucco, Valéria Bumiller‐Bini Hoch, Priscila Ianzen dos Santos, Fabiana L. Lopes, Alan Shuldiner, Emilton Lima Júnior, Angelica Beate Winter Boldt   +8 more
wiley   +1 more source

Type-I Interferon Signaling in Fanconi Anemia

Frontiers in Cellular and Infection Microbiology, 2022
Fanconi Anemia (FA) is a genome instability syndrome caused by mutations in one of the 23 repair genes of the Fanconi pathway. This heterogenous disease is usually characterized by congenital abnormalities, premature ageing and bone marrow failure.
Karima Landelouci, Karima Landelouci, Shruti Sinha, Geneviève Pépin, Geneviève Pépin   +4 more
doaj   +1 more source

A theory for the tissue specificity of BRCA1/2 related and other hereditary cancers [PDF]

, 2010
Women who inherit a defective BRCA1 or BRCA2 gene have risks for breast and ovarian cancer that are so high and seem so selective that many mutation carriers choose to have prophylactic surgery. There has been much conjecture to explain such apparently
Bernard Friedenson
core   +1 more source

FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts

Cell Proliferation, EarlyView.
FAM20A variants cause AI1G, marked by enamel defects, gingival overgrowth and ectopic calcifications. RNA sequencing of patient‐derived gingival fibroblasts showed dysregulated genes in adhesion, proliferation and signalling pathways. Functional assays revealed increased cell proliferation, impaired ECM interactions and osteogenesis, suggesting FAM20A ...
Kanokwan Sriwattanapong, Sermporn Thaweesapphithak, Chompak Khamwachirapitak, Pannagorn Sae‐ear, Sasiprapa Prommanee, Noppadol Sa‐Ard‐Iam, Suphalak Phothichailert, Han Sung Jung, Vorasuk Shotelersuk, Thantrira Porntaveetus   +9 more
wiley   +1 more source

Ubiquitination dynamics in human tumour viruses: Viral infection, oncogenesis and antiviral therapy

The FEBS Journal, EarlyView.
The ubiquitin system is essential for cellular homeostasis and regulates many processes. Viruses, including oncogenic ones, exploit or evade this system to survive and replicate. This review explores how human tumour viruses manipulate the ubiquitination system to complete their life cycle, evade immunity and promote cancer.
Oscar Trejo‐Cerro, Martina Bergant Marušič, Justyna Broniarczyk   +2 more
wiley   +1 more source

A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia [PDF]

, 2016
We report the findings from a patient who presented with a concurrent mediastinal germ cell tumor (GCT) and acute myeloid leukemia (AML). Bone marrow pathology was consistent with a diagnosis of acute megakaryoblastic leukemia (AML M7), and biopsy of an ...
Demeter, Ryan T, Duncavage, Eric J, Griffith, Malachi, Griffith, Obi L, Hagemann, Ian S, Lu, Charles, Magrini, Vincent, Miller, Christopher A, O\u27Laughlin, Michelle, Ozenberger, Bradley A, Riedell, Peter, Wartman, Lukas D, Westervelt, Peter   +12 more
core   +2 more sources

Empagliflozin does not prevent progression of Dent's disease type 1 in a mouse model

Experimental Physiology, EarlyView.
Abstract Dent's disease is a rare inherited renal disorder characterized by generalized proximal tubule dysfunction with low molecular weight proteinuria, hypercalciuria, and urinary loss of other solutes. The disease is progressive and leads to chronic kidney disease.
Elise de Combiens, Nadia Frachon, Yohan Bignon, Marc Fila, Clément Brossard, Perrine Frère, Stéphane Lourdel   +6 more
wiley   +1 more source

Wissler-Fanconi syndrome and related diagnoses: a case report

Open Access Rheumatology: Research and Reviews, 2016
Mustafa Q Albustani,1 Robert F Howard2 1Section of Medicine/Pediatrics, The University of Oklahoma College of Medicine, Tulsa, OK, USA; 2Division of Rheumatology, Utica Park Clinic, Tulsa, OK, USA Introduction: Wissler–Fanconi syndrome is a rare ...
Albustani MQ, Howard RF
doaj  

Adefovir dipivoxil-induced development of osteomalacia and Fanconi syndrome during the treatment of hepatitis B virus (HBV)-related cirrhosis

Clinical Management Issues, 2014
Adefovir dipivoxil is a nucleotide analog reverse transcriptase inhibitor used to treat adult patients affected by HBeAg-positive and HBeAg-negative chronic hepatitis B and with clinical evidence of lamivudine-resistant hepatitis B virus (HBV).
Orietta Staltari, Benedetto Caroleo, Andzelika Michniewicz, Giovambattista De Sarro, Franco Perticone, Luca Gallelli   +5 more
doaj   +1 more source