Results 81 to 90 of about 23,214 (166)

Knowledge Mapping of Alport Syndrome: A Bibliometric Analysis From 2000 to 2025

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This bibliometric analysis outlines global research trends, collaborations, and hotspots of Alport syndrome, offering references for future basic research and clinical management. ABSTRACT Background Alport syndrome (AS) is a multisystem hereditary disorder characterized by persistent hematuria, progressive renal insufficiency, sensorineural hearing ...
Xiujuan Cao, Wei Zhou, Yong Wang, Lvxian Wu, Jianhua Mao   +4 more
wiley   +1 more source

Posterior polymorphous corneal dystrophy in X linked Alport syndrome

Revista Brasileira de Oftalmologia
We describe a six-year-old boy with a history of hematuria, posterior polymorphous corneal dystrophy and dots and fleck retinopathy. Alport syndrome should be ruled out in patients presenting with posterior polymorphous corneal dystrophy or anterior ...
Flavia Ribeiro Monteiro de Godoy, Elham Al Qahtani, Christopher J. Lyons   +2 more
doaj   +1 more source

Study of the True Clinical Progression of Autosomal Dominant Alport Syndrome in a European Population

Kidney & Blood Pressure Research, 2015
Background/Aims: Autosomal dominant Alport syndrome represents 5% of all Alport syndrome cases. This entity presents a different clinical expression from the recessive inheritance pattern and the X chromosome-linked pattern, because it is mild and it ...
Consolación Rosado, Elena Bueno, Carmen Felipe, Sebastián Valverde, Rogelio González-Sarmiento   +4 more
doaj   +1 more source

Proteolysis at the extracellular matrix interface: Molecular architects and regulators in health and disease

The FEBS Journal, Volume 293, Issue 13, Page 3758-3787, July 2026.
The extracellular matrix (ECM) is a dynamic scaffold that orchestrates tissue architecture and cellular communication. A critical but underexplored interplay between proteases and cluster of differentiation molecules (CD) governs ECM turnover and directs cell fate.
David Jurnečka, Matija Hrovatin, Bor Bokalj, Boris Turk   +3 more
wiley   +1 more source

Prevalence of diagnostic Mendelian kidney disease variants in type 2 diabetes with and without diabetic kidney disease

Journal of Diabetes Investigation, Volume 17, Issue 6, Page 1000-1003, June 2026.
We examined the frequency of diagnostic variants associated with Mendelian kidney disease in patients with type 2 diabetes and compared their prevalence between those with and without DKD. A total of 2177 patients with type 2 diabetes were examined. The prevalences of diagnostic variant of Mendelian kidney disease were 8.6% (DKD +) vs 7.8%, and there ...
Yosuke Hirakawa, Yuka Sugawara, Masaomi Nangaku   +2 more
wiley   +1 more source

The Value of Clinical Criteria in Identifying Patients with X-Linked Alport Syndrome [PDF]

Clinical Journal of the American Society of Nephrology, 2011
Summary Background and objectives Alport syndrome (AS) is a predominantly X-linked hereditary nephritis associated with high-tone, sensorineural deafness and characteristic eye signs. Clinical diagnostic criteria were defined in 1988.
Helen, Hanson, Helen, Storey, Judith, Pagan, Frances, Flinter   +3 more
openaire   +2 more sources

COL12A1 rs970547 Polymorphism Predisposes Anterior Cruciate Ligament Injury by Inducing ER Stress and Impairing Fibroblast Function

Advanced Biology, Volume 10, Issue 5, May 2026.
The COL12A1 rs970547(A/A) polymorphism is over‐represented in Chinese male anterior cruciate ligament (ACL) injury patients. This variant destabilizes COL12A1 protein without altering transcript levels, driving compensatory upregulation of other collagen genes and inducing endoplasmic reticulum stress in ACL‐derived fibroblasts.
Wenchuan Zhao, Hong Chen, Junwei Wang, Yixin Li, Rui Chen, Jingyi Zhou   +5 more
wiley   +1 more source

Phacolytic uveitis associated with spontaneous rupture of anterior capsule in a patient with Alport syndrome

Iatreia, 2019
Alport syndrome is a rare genetic disorder due to mutations involving the coding genes for type IV collagen characterized by renal failure, sensorineural hearing loss and ocular abnormalities.
López Torres, Vanessa, Ramírez-Cheyne, Julián Andrés , Lozano Cruz, Edgar, Salamanca Libreros, Omar Fernando   +3 more
doaj   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 636-642, May 2026.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

X-linked IgA nephropathy plus Alport syndrome: one case report

Linchuang shenzangbing zazhi, 2021
临床资料患儿,女,6岁8个月,因"反复颜面部、双下肢水肿4个月,咳嗽3 d"于2018年10月30日入院。患儿4个月前无明显诱因出现眼睑水肿,无尿频、尿急、肉眼血尿,无皮疹、口腔溃疡、光过敏、脱发,无腹痛、关节疼痛,曾在外院诊断"肾病综合征"予泼尼松治疗可达部分缓解,家属依从性差,出院后自行停药改中药调理,病情仍反复。个人史、既往史无特殊,父母及同胞弟弟正常,祖父祖母40余岁不明疾病去世。入院量血压120～90/60～80 mmHg（1 mmHg=0.133kPa）,
Liu Ya-qing, Zhou Yan-qing, Xiao Xue-qin
doaj