Results 31 to 40 of about 3,403 (162)

Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?

, 2021
Background Single mutations in COL4A3/COL4A4 genes have been described in patients with autosomal dominant Alport syndrome and thin basement membrane nephropathy, without a shared definition of these patients within the medical community.
Pierangela Castorina, Marisa Giani, Giovanni Montini, Antonio Mastrangelo, Catarina Madeira   +4 more
core   +1 more source

Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis

Scientific Reports, 2023
The spectra of underlying genetic variants for various clinical entities including focal segmental glomerulosclerosis (FSGS) vary among different populations.
Suramath Isaranuwatchai, Ankanee Chanakul, Chupong Ittiwut, Rungnapa Ittiwut, Chalurmpon Srichomthong, Vorasuk Shotelersuk, Kanya Suphapeetiporn, Kearkiat Praditpornsilpa   +7 more
doaj   +1 more source

Neuroendocrine pancreatic tumor in a patient with dual diagnosis of tuberous sclerosis complex and basement membrane disease: A case report and review of the literature

Radiology Case Reports, 2021
Tuberous Sclerosis is a complex genetic disease that has well-defined clinical criteria. These criteria don't include pancreatic neuroendocrine tumors.
Saba Kopadze, MD, Inga Shoshiashvili, MD, Anna Dumbadze, MD, Tinatin Tkemaladze, PHD, Ivane Kiladze, MD   +4 more
doaj   +1 more source

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis. [PDF]

, 2014
Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes, including inherited genetic defects, with significant proteinuria being the predominant clinical finding at presentation.
Malone, Andrew F, Webb, Nicholas J A, Winn, Michelle P., Shaw, Andrey S, Homstad, Alison, Alonso, Andrea S., Cetincelik, Umran, Lindsey, Thomas B, Alonso, Andrea S, Conlon, Peter J, Jennette, J Charles, Phelan, Paul J, Sparks, Matthew A, Jiang, Ruiji, Webb, Nicholas JA, Adeyemo, Adebowale A., Gbadegesin, Rasheed A, Winn, Michelle P, Webb, Nicholas J.A., Kalra, Philip A, Howell, David N, Hall, Gentzon, Charles Jennette, J., Smith, Stephen R, Smith, Stephen R., Malone, Andrew F., Conlon, Peter J., Adeyemo, Adebowale A, Sparks, Matthew A., Gbadegesin, Rasheed A., Lindsey, Thomas B., Phelan, Paul J., Kalra, Philip A., Howell, David N., Wu, Guanghong, Shaw, Andrey S.   +35 more
core   +1 more source

A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people

Frontiers in Medicine, 2023
IntroductionRomani people have a high prevalence of kidney failure. This study examined a Romani cohort for pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes that are affected in Alport syndrome (AS), a common cause of genetic kidney disease ...
Pavlina Plevova, Pavlina Plevova, Jana Indrakova, Judy Savige, Petra Kuhnova, Petra Tvrda, Dita Cerna, Sarka Hilscherova, Monika Kudrejova, Daniela Polendova, Radka Jaklova, Martina Langova, Helena Jahnova, Jana Lastuvkova, Jiri Dusek, Josef Gut, Marketa Vlckova, Pavla Solarova, Gabriela Kreckova, Eva Kantorova, Jana Soukalova, Rastislav Slavkovsky, Jana Zapletalova, Tomas Tichy, Dana Thomasova   +24 more
doaj   +1 more source

Kidney Biopsy and Type IV Collagen Gene Sequencing Fail to Explain Hematuria in Loin Pain Hematuria Syndrome

Kidney International Reports, 2023
Introduction: Loin pain hematuria syndrome (LPHS) is a rare clinical syndrome with a reported prevalence of 1 in 10,000. The syndrome is characterized by severe pain localized to the kidney in the absence of identifiable urinary tract disease. Because of
Bhanu Prasad, Aditi Sharma, Mathew B Lanktree, Kunal Goyal, Pouneh Dokouhaki   +4 more
doaj   +1 more source

A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives

Biomedicines, 2023
Alport syndrome (AS) is a rare genetic disorder categorized by the progressive loss of kidney function, sensorineural hearing loss and eye abnormalities.
Nahed N. Mahrous, Yahya F. Jamous, Ahmad M. Almatrafi, Deema I. Fallatah, Abdulrahman Theyab, Bayan H. Alanati, Suliman A. Alsagaby, Munifa K. Alenazi, Mohammed I. Khan, Yousef M. Hawsawi   +9 more
doaj   +1 more source

Dynamic Loading Regulates Meniscus‐Like Matrix Production in Human Mesenchymal Stromal Cell‐Seeded PET Scaffolds

Advanced Healthcare Materials, EarlyView.
Dynamic compression enhances mesenchymal stromal cell proliferation in nonwoven PET scaffolds under chondrogenic differentiation conditions and triggers mechanosensitive transcriptional programs associated with extracellular matrix remodeling. These findings highlight the potential of mechanically stimulated PET scaffolds as a promising platform for ...
Graciosa Quelhas Teixeira, Luisa de Roy, Anna‐Lotta Feldmeier, Mubashir Ahmad, Sofia Pilão, Maria Ahrens, Anita Ignatius, Carsten Linti, Andreas Martin Seitz   +8 more
wiley   +1 more source

Dual‐Organelle Secretome Conjugation and Organ‐Uptake Tracking (DuO‐SCOUT) Enables Deep and Sensitive Mapping of the Secreted Proteins

Advanced Science, EarlyView.
A novel dual‐organelle proximity labeling platform, DuO‐SCOUT, decodes the complex landscape of systemic organ‐organ communication by capturing both classical and unconventional secretomes. Application in metabolic models maps the adipose‐to‐brain secretory relay, identifying selective extra‐hypothalamic sites for adipose‐derived factors and expanding ...
Fenglian Yang, Rui Qian, Jiaxing Song, Xingqi Meng, Jin Young Kim, Kwok On Lai, Li Wang, Liang Zhang   +7 more
wiley   +1 more source

Isocyanate‐Modified Melatplatin(IV) Enhances Antitumor Efficacy via TCF4/COL6A3‐Mediated Extracellular Matrix Remodeling and cGAS‐STING Pathway Activation in Bladder Cancer

Advanced Science, EarlyView.
A series of melatonin‐conjugated platinum(IV) prodrugs was functionalized with isocyanate chains (compounds 5‒12). MP‐12C (compound 11) was identified as the lead candidate, with optimal potency and safety. MP‐12C exhibited greater efficacy than cisplatin by increasing intracellular uptake, reshaping the extracellular matrix, activating the cGAS‐STING ...
Linhui Wang, Xiaomeng Liu, Tao Zhu, Zirun Su, Ruiping Liu, Zhe Li, Kaixuan Du, Kaipeng Jia, Chong Fu, Yuda Lin, Zihan Xue, Zhe Zhang, Chong Shen, Yunkai Qie, Zhouliang Wu, Zhiheng Liu, Kangkang Liu, Jingyuan Xu, Hailong Hu   +18 more
wiley   +1 more source