Results 91 to 100 of about 3,318 (192)

Kibra knockdown inhibits the aberrant Hippo pathway, suppresses renal cyst formation and ameliorates renal fibrosis in nphp1KO mice

Clinical and Translational Medicine, Volume 15, Issue 3, March 2025.
• Canonical Hippo pathway activated in nphp1‐deficient disease models and patients. • Kibra was a key upstream molecule in regulating the activation of canonical Hippo pathway in nphp1‐deficient disease models and patients and closely related to renal cyst formation and fibrosis in nphp1KO mice.
Yichen Yang, Zhihe Xue, Jiayong Lai, Jinglan Zhang, Changmiao Pang, Jinglin Zhong, Zhanpeng Kuang, Baojuan Zou, Yaqing Liu, Liangzhong Sun   +9 more
wiley   +1 more source

Abernethy malformation associated with Caroli’s syndrome in a patient with a PKHD1 mutation: a case report

Diagnostic Pathology, 2017
Background Abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt.
Xiao-xiao Mi, Xiao-guang Li, Zi-rong Wang, Ling Lin, Chun-hai Xu, Jun-ping Shi   +5 more
doaj   +1 more source

Biliary sepsis complication with congenital hepatic fibrosis: an unexpected outcome

BMC Infectious Diseases, 2023
Background CHF (Congenital hepatic fibrosis) is a rare hereditary disease characterized by periportal fibrosis and ductal plate malformation. Little is known about the clinical presentations and outcome in CHF patients with an extraordinary complication ...
Jiawei Sun, Xiaoxiao Mi, Xiaoying Ye, Yiling ShenTu, Chun Liu, Dong Tang, WenJun Yang, Jie Yang, Xiaoping Ye, Xiaojie Ma, Junping Shi, Gongying Chen, Ling Gong   +12 more
doaj   +1 more source

Relationship between driver gene mutations and clinical pathological characteristics in older lung adenocarcinoma

Frontiers in Oncology, 2023
ObjectivesLung adenocarcinoma (LUAD) is the most common newly diagnosed malignant tumor in older people. As older patients age, organ function decreases, leading to increased adverse reactions to treatment. The epidermal growth factor receptor (EGFR) and
Xia Liu, Guopeng Jiang, Xuefei Sun, Guangfeng Su, Xuan Zhang, Dan Shen, Na Yan   +6 more
doaj   +1 more source

The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance

Clinical Genetics, Volume 107, Issue 3, Page 323-327, March 2025.
We compared the reported prevalence of rare recessive diseases obtained from epidemiological data with the population mutational load in their causative genes. If the knowledge of the genetic etiology of the disease is correct, the two estimates should be similar (A).
Stefano Medaglia, Jaume Reig‐Palou, Ariadna Bellés, Nerea Moreno‐Ruiz, Jairo Rodríguez, Xavier Armengol, Juan Ignacio Aróstegui, Lluís Armengol, Juan José Guillén, Hafid Laayouni, Ferran Casals   +10 more
wiley   +1 more source

Generation of induced pluripotent stem cells from peripheral blood mononuclear cells obtained from an adult with autosomal recessive polycystic kidney disease

Stem Cell Research, 2022
Autosomal recessive polycystic kidney disease is a hereditary fibrocystic disease that involves the kidneys and biliary tract. Its major histological presentations are the fusiform dilatation of renal collecting ducts and the malformation of the ...
Mingyang Sun, Jian Li, Shunlai Shang, Xueyuan Bai, Guangyan Cai, Qinggang Li   +5 more
doaj  

Adult Renal Cysts: When to Intervene?

Trends in Urology &Men's Health, Volume 16, Issue 1, February 2025.
ABSTRACT Renal cysts are common in the adult population and can be challenging to decide which need intervention or follow‐up. Assessment based on history, examination and cross‐sectional imaging will determine the disposition for patients based on their risk of malignancy and symptoms. The Bosniak Classification is used to stratify risk of malignancy,
Madeleine Bain, Adib Rahman, Nicholas Rukin, Devang Desai   +3 more
wiley   +1 more source

Genomic landscape of pancreatic cancer in the Japanese version of the Cancer Genome Atlas

Annals of Gastroenterological Surgery, 2023
Background Pancreatic cancer (PC) is one of the most aggressive cancers worldwide. Although many studies have investigated genomic alterations, the genomic landscape of Japanese PC patients has not been fully elucidated.
Taisuke Imamura, Ryo Ashida, Keiichi Ohshima, Katsuhiko Uesaka, Teiichi Sugiura, Yukiyasu Okamura, Katsuhisa Ohgi, Sumiko Ohnami, Takeshi Nagashima, Ken Yamaguchi   +9 more
doaj   +1 more source

The Role of Angiotensin‐II Infusion in an Infant With Autosomal Recessive Polycystic Kidney Disease Postbilateral Nephrectomies and Refractory Hypotension in the Neonatal Period

Case Reports in Nephrology, Volume 2025, Issue 1, 2025.
Autosomal recessive polycystic kidney disease (ARPKD) is a form of hereditary cystic disease with a highly variable phenotypic expression that ultimately leads to chronic kidney disease. Severe cases may warrant surgical intervention with unilateral or bilateral nephrectomy to alleviate thoracic and abdominal compression from massive nephromegaly ...
Ana Nevarez Gilbert, Adrianne Rahde Bischoff, Kyle Merrill, Yoshihide Fujigaki   +3 more
wiley   +1 more source

A polycystin-centric view of cyst formation and disease: the polycystins revisited [PDF]

, 2015
It is 20 years since the identification of PKD1, the major gene mutated in autosomal dominant polycystic kidney disease (ADPKD), followed closely by the cloning of PKD2. These major breakthroughs have led in turn to a period of intense investigation into
Harris, P.C., Ong, A.C.M.
core   +2 more sources