Results 81 to 90 of about 2,524,364 (180)

Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health

Clinical Genetics, Volume 109, Issue 2, Page 266-276, February 2026.
In 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Luiza Beatriz Mayer de Lima, Eduardo Delabio Auer, Isabela Dall’Oglio Bucco, Valéria Bumiller‐Bini Hoch, Priscila Ianzen dos Santos, Fabiana L. Lopes, Alan Shuldiner, Emilton Lima Júnior, Angelica Beate Winter Boldt   +8 more
wiley   +1 more source

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study

Clinical Genetics, Volume 109, Issue 1, Page 136-140, January 2026.
In a multicenter study of 692 patients with kidney disease, a 44‐gene panel achieved a 36% diagnostic yield. The 36% yield was not significantly lower than with larger panels or whole‐exome sequencing. A post hoc machine‐learning model identified key predictors to stratify patients into four risk bins (11%–74% yield), enabling more cost‐effective ...
Silvia Giovanella, Antonio Miguel Poyatos‐Andújar, Maria Mar Aguila Garcia, Almudena Avila‐Fernandez, Ana Bustamante‐Aragonés, Carmen Ayuso, Antonio Percesepe, Davide Martorana, Maria Ferri, Alessandra Terracciano, Laura Massella, Johanna Chester, Francesca Testa, Giulia Ligabue, Marco Ferrarini, Dino Gibertoni, Gaetano Alfano, Elena Tenedini, Lucia Artuso, Marco Marino, Olga Calabrese, Enrico Tagliafico, Riccardo Magistroni   +22 more
wiley   +1 more source

Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Perlman syndrome is a rare autosomal recessive overgrowth disorder characterized by macrosomia, nephromegaly, renal dysplasia, and characteristic facial features. It has both similarities and differences to other more common overgrowth syndromes. Pathogenic homozygosity is extremely rare in nonconsanguineous relationships.
Esther Levy, Leighton Elliott, Michal A. Miller, Mackenzie Kramer, Balraj Mittal   +4 more
wiley   +1 more source

Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis [PDF]

, 2010
Recent genetic studies have led to identification of numerous loci that are associated with susceptibility to autoimmune diseases. The strategy of using information from these studies has facilitated the identification of novel juvenile idiopathic ...
S Eyre, J Worthington, X Ke, P Martin, W Thomson, A Hinks, E Flynn, J Packham, A Barton, Martin, P., Barton, A., Gardner-Medwin, J. [CAPS and BSPAR study groups], UKRAG Consortium, Worthington, J., Thomson, W., Flynn, E., Packham, J., Hinks, A., British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group, Eyre, S., Ke, X., Childhood Arthritis Prospective Study (CAPS)   +21 more
core   +1 more source

A proposed classification for standardized reporting of liver disease in children with autosomal recessive polycystic kidney disease

JPGN Reports, Volume 7, Issue 3, Page 477-478, August 2026.
Kavya Kurkal, Girish L. Gupte
wiley   +1 more source

Whole‐Exome Sequencing to Screen Personal Neoantigens With High Immunogenicity in Patients With Microsatellite Stability (MSS)–Advanced Colorectal Cancer

Human Mutation, Volume 2026, Issue 1, 2026.
To develop a personalized neoantigen therapy strategy for microsatellite stability (MSS)–advanced colorectal cancer (CRC), neoantigens from collected human CRC samples were screened, and the feasibility and effectiveness of these neoantigens in treating CRC were explored.
Dajiang Li, Wenjing Shen, Siyu Yang, Hongmei Liu, Xiao Tan, Xinrong He, Jingchao Hao, Xinqiang Yin, Finlay Macrae   +8 more
wiley   +1 more source

Data_Sheet_1_Mosaic PKHD1 in Polycystic Kidneys Caused Aberrant Protein Expression in the Mitochondria and Lysosomes.PDF

, 2021
Autosomal recessive polycystic kidney disease (ARPKD) is a severe renal cystic disease caused mainly by the polycystic kidney and hepatic disease 1 (PKHD1).
Huijun Shen (10717623), Zhihong Lu (349154), Jie Xu (34477), Jingjing Wang (140791), Qing Ye (90197), Chengxian Xu (7143806), Chenxi Yang (1718218), Enyin Lai (11842346), Yuchen Zhang (524816), Jianhua Mao (447450), Pingping Jiang (307787), Lingxiao Tong (11842343)   +11 more
core   +1 more source

GGPS1 Promoter Variant (rs3806394) Is Associated With Larger Simple Renal Cysts via Reduced GGPPS Expression

Human Mutation, Volume 2026, Issue 1, 2026.
Objective We are aimed at investigating the association between the size of simple renal cyst (SRC) and the expression of geranylgeranyl pyrophosphate synthase (GGPPS), which can induce renal cyst formation after its deletion. Methods Seventy‐seven patients who received renal cyst decortication were enrolled.
Kai Wang, Tianzhen Tang, Tao Xu, Zhen Chen, Liming Gou, Yuqi Wang, Dong Wang, Jing Wu, Xiuxing Wang, Bin Xue, Xianlin Xu, Hannah Wesley   +11 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

Type IV choledochal cyst with polycystic kidney disease: a case report

BMC Gastroenterology, 2020
Background Choledochal cysts are divided into 5 types. Physicians believe that Caroli disease (which refers to type V biliary cysts) is a special type of biliary cyst caused by a mutation in the PKHD1 gene and is associated with autosomal recessive ...
Yuxin He, Zhuwen Yu, Weichang Chen
doaj   +1 more source