Results 51 to 60 of about 4,269 (127)

Identification of a Novel De Novo Heterozygous SEC61A1 Variant in a Patient With Severe Congenital Neutropenia

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Severe congenital neutropenia can be caused by rare SEC61A1 variants. We report a child with SCN showing granulocytic maturation arrest and abnormal immunophenotype, carrying a novel de novo SEC61A1 p.Trp379Arg variant, expanding the phenotypic and genetic spectrum of SEC61A1‐associated SCN.
Zixuan Wang, Hui Jing, Yuhan Chen, Ling Zhong, Jiyun Yang   +4 more
wiley   +1 more source

Somatostatin in renal physiology and autosomal dominant polycystic kidney disease [PDF]

, 2020
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive cyst formation, leading to growth in kidney volume and renal function decline.
Messchendorp, A Lianne, Meijer, Esther, Gansevoort, Ron T, Casteleijn, Niek F   +3 more
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Autosomal Dominant Tubulointerstitial Kidney Disease Clinical Trial Simulator: Case Reports of Model‐Informed Drug Development

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 5, May 2026.
ABSTRACT Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is the third most common inherited monogenic kidney disorder. Mutations in UMOD and MUC1 account for most cases, with the disease characterized by progressive eGFR decline leading to kidney failure. No disease‐modifying therapies exist, and transplantation is the only current option.
Shyam S. Ramesh, Mark Rogge, Jongjin Kim, Sanghoon Kang, Kendrah Kidd, Adrienne Williams, Julie Roignot, Katherine Blakeslee, Anthony J. Bleyer, Sarah Kim   +9 more
wiley   +1 more source

The MICOS Complex Regulates Mitochondrial Structure and Oxidative Stress During Age‐Dependent Structural Deficits in the Kidney

Aging Cell, Volume 25, Issue 5, May 2026.
During kidney aging, loss of the MICOS complex drives cristae disorganization, impairs oxidative capacity, and alters mitochondrial dynamics. MICOS disruption elevates mitochondrial ROS and disrupts calcium homeostasis, linking mitochondrial structural remodeling to metabolic dysfunction in aging kidney tissue.
Prasanna Katti, Praveena Prasad, Sepiso K. Masenga, Prasanna Venkhatesh, Zer Vue, Andrea G. Marshall, Benjamin Rodriguez, Han Le, Edgar Garza‐Lopez, Alexandria Murphy, Brenita Jenkins, Ashlesha Kadam, Jianqiang Shao, Amber Crabtree, Pamela Martin, Chantell Evans, Mark A. Phillips, David Hubert, Nelson Wandira, Okwute M. Ochayi, Dhanendra Tomar, Clintoria R. Williams, Jennifer Gaddy, Briar Tomeau, LaCara Bell, Taneisha Gillyard, Markis' Hamilton, Vineeta Sharma, Mohd Mabood Khan, Elma Zaganjor, Olujimi A. Ajijola, Estevão Scudese, Tyne W. Miller Fleming, André Kinder, Chandravanu Dash, Anita M. Quintana, Bret C. Mobley, Julia D. Berry, Pooja Jadiya, Dao‐Fu Dai, Annet Kirabo, Oleg Kovtun, Jenny C. Schafer, Sean Schaffer, Renata Oliveira Pereira, Debra D. Murray, Joyonna Gamble‐George, Melanie R. McReynolds, Antentor Hinton Jr   +48 more
wiley   +1 more source

Impact of Expanded Hemodialysis on Inflammation and Iron Metabolism in Chronic Hemodialysis Patients

Seminars in Dialysis, Volume 39, Issue 3, Page 105-115, May/June 2026.
ABSTRACT Microinflammation and functional iron deficiency are major contributors to anemia and treatment burden in maintenance hemodialysis (HD). Medium cutoff (MCO) membranes enhance the removal of middle‐ and large‐sized solutes implicated in these pathways, yet real‐world data using routinely measured inflammatory and iron‐related markers are scarce.
Berrak Itır Aylı, Gülay Ulusal Okyay, Mehmet Deniz Aylı   +2 more
wiley   +1 more source

Autosomal Dominant Polycystic Kidney Disease: Review and Management Update

, 2014
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited nephropathy. Initially, it is characterised by the growth of renal cysts. Later, progressive deterioration of renal function determines the prognosis of ADPKD, depending on
Víctor Martínez
core  

Utility of new image-derived biomarkers for autosomal dominant polycystic kidney disease prognosis using automated instance cyst segmentation

, 2023
New image-derived biomarkers for patients affected by autosomal dominant polycystic kidney disease are needed to improve current clinical management. The measurement of total kidney volume (TKV) provides critical information for clinicians to drive care ...
Kyongtae T. Bae, Gregory, AV, Bae, KT, Yu, ASL, Mrug, M, Erickson, BJ, Bhavya Poudyal, William M. Bennett, Harris, PC, Alan S.L. Yu, Peter C. Harris, Douglas P. Landsittel, Timothy L. Kline, Chebib, F, Vicente E. Torres, Michal Mrug, Bradley J. Erickson, Poudyal, B, Chapman, AB, Rahbari-Oskoui Frederic, Frederic, RO, Adriana V. Gregory, Arlene B. Chapman, Torres, VE, Holmes, H, Kline, TL, Landsittel, DP, Bennett, WM, Fouad T. Chebib, Heather L. Holmes   +29 more
core   +1 more source

Interdialytic blood pressure is independent of weight gain and correlated with serum angiotensin II levels in adults

Physiological Reports, Volume 14, Issue 9, May 2026.
Abstract Chronic volume overload is a major risk factor of hypertension and mortality in chronic dialysis patients. However, the mechanisms responsible for hypertension are unclear. We studied 32 patients (age 23–68 years, 19 females) in chronic hemodiafiltration classified by their interdialytic ambulatory blood pressure (idABP, mmHg) in three groups:
Adolfo Diaz, Brenda Delgado, Eduardo R. Argaiz, Olynka Vega, Ricardo Correa‐Rotter, Bernardo Rodriguez‐Iturbe   +5 more
wiley   +1 more source

Chinese clinical practice guide for autosomal dominant polycystic kidney disease

, 2019
常染色体显性多囊肾病(autosomal dominant polycystic kidney disease, ADPKD)是最常见的遗传性肾病,患病率为1/400～1/1000[1]。ADPKD主要致病基因有两个,PKD1和PKD2,其突变导致疾病分别约占发病人群的85%和15%[2-3]。该病为常染色体显性遗传病,子代发病机率为50%。患者多在成年后出现双侧肾脏囊肿,随年龄增长,逐渐损害肾脏结构和功能[4 ...
Expert Committee on Clinical Practice Guidelines for Autosomal Dominant Polycystic Kidney Disease
core