Results 171 to 180 of about 621,963 (341)

Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease. [PDF]

Kidney Int, 2023
Apple B, Sartori G, Moore B, Chintam K, Singh G, Anand PM, Strande NT, Mirshahi T, Triffo W, Chang AR.   +9 more
europepmc   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Polycystin 2 is increased in disease to protect against stress-induced cell death [PDF]

, 2020
Brill, Allison L., Campbell, Stuart G., Cantley, Lloyd G., Chung, Hee Jung, Ehrlich, Barbara E., Fischer, Tom T., Johnson, Eric K., Marlier, Arnaud, Moeckel, Gilbert, Nerbonne, Jeanne M., Robert, Marie E., Sewanan, Lorenzo R., Walters, Jennifer M., Wilson, Parker C.   +13 more
core   +1 more source

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.

American Society of Nephrology. Clinical Journal, 2014
A. Bleyer, S. Kmoch, C. Antignac, Victoria C. Robins, K. Kidd, J. Kelsoe, Gerald Hladik, P. Klemmer, Stephen J. Knohl, S. Scheinman, Nam Vo, A. Santi, A. Harris, O. Canaday, Nelson Weller, P. Hulick, K. Vogel, F. Rahbari-Oskoui, J. Tuazon, C. Deltas, D. Somers, A. Mégarbané, P. Kimmel, C. Sperati, A. Orr-Urtreger, S. Ben-Shachar, D. Waugh, S. McGinn, A. Bleyer, K. Hodaňová, P. Vylet’al, Martina Živná, T. Hart, P. Hart   +33 more
semanticscholar   +1 more source

Acquired Cystic Kidney Disease: A Hidden Complication in Children on Chronic Hemodialysis. [PDF]

Cureus, 2022
Khatri S, Bajeer I, Lanewala AAA, Farid M, Hashmi S.   +4 more
europepmc   +1 more source

Constitutional symptoms and response to Penicillin G in erysipelas and cellulitis – a monocentric, retrospective, explorative study

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background: Erysipelas, caused by streptococci, should be treated with penicillin, while uncomplicated cellulitis (phlegmon), often caused by Staphylococcus aureus, requires penicillinase‐resistant beta‐lactam antibiotics, which have a higher risk of adverse effects. Distinguishing between these infections is important.
Helena Schieffers, Cord Sunderkötter
wiley   +1 more source

Development of polycystic kidney disease in juvenile cystic kidney mice: insights into pathogenesis, ciliary abnormalities, and common features with human disease.

Journal of the American Society of Nephrology, 2006
Laurie A. Smith, N. Bukanov, H. Husson, R. Russo, Tiffany C Barry, Ava L. Taylor, D. Beier, O. Ibraghimov-Beskrovnaya   +7 more
semanticscholar   +1 more source

Semaglutide and tirzepatide effects on cardiovascular outcomes in people with overweight or obesity in the real world (STEER)

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Aims To assess the real‐world effectiveness of semaglutide versus tirzepatide in reducing major adverse cardiovascular events (MACE) among patients with overweight/obesity and established atherosclerotic cardiovascular disease (ASCVD) without diabetes in an insured US population.
Lauren Wilson, Zhenxiang Zhao, Victoria Divino, Matthew Bassan, Bríain Ó. Hartaigh, Signe Stensen, Kerem Ozer   +6 more
wiley   +1 more source

Activation of Notch3 in Renal Tubular Cells Leads to Progressive Cystic Kidney Disease. [PDF]

Int J Mol Sci, 2022
Djudjaj S, Kavvadas P, Prakoura N, Bülow RD, Migeon T, Placier S, Chadjichristos CE, Boor P, Chatziantoniou C.   +8 more
europepmc   +1 more source

Risk of acute pancreatitis with DPP‐4 inhibitors versus SGLT2 inhibitors in medication‐naïve individuals with diabetes: A target trial emulation

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Aims We investigated whether dipeptidyl peptidase‐4 inhibitor (DPP‐4i) use was associated with a higher risk of acute pancreatitis compared with sodium–glucose cotransporter 2 inhibitor (SGLT2i) use in antidiabetic medication‐naïve individuals.
Takashi Tatewaki, Akira Okada, Yuya Kimura, Hideo Yasunaga   +3 more
wiley   +1 more source