Results 81 to 90 of about 3,398 (180)

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

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

The Enigmatic Teratoma: Tracing Tissue Origins Through Methylation Profiling

Stem Cells International, Volume 2026, Issue 1, 2026.
Purpose Mature cystic teratomas of the ovary can contain skin, hair, muscle, and bone and are usually found in women of reproductive age. Elucidating epigenomic aberrations in these teratomas may result in a better understanding of their stepwise developmental processes and molecular bases. Methods Here, we analyzed the methylation statuses of promoter
Wen-Chung Wang, Chen-Yun Kuo, Tai-Cheng Hou, Yen-Chein Lai, Harleen Khatra   +4 more
wiley   +1 more source

Bilateral nephrocalcinosis: an unusual presentation in early childhood with PKHD1 biallelic inheritance

, 2023
Abstract Background: Nephrocalcinosis (NC) is characterized by an excessive accumulation of calcium deposits in the kidneys. In children, it is often incidentally discovered with an uncertain prognosis. Case-diagnosis/treatment: A 3-month-old girl suspected to have a milk protein allergy underwent an abdominal ultrasound that revealed ...
Paola Krall, Victor Faúndes, Carla Galvez, Felipe Cavagnaro   +3 more
openaire   +1 more source

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome

Italian Journal of Pediatrics, 2020
Introduction Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12.
Gregorio Serra, Giovanni Corsello, Vincenzo Antona, Maria Michela D’Alessandro, Nicola Cassata, Marcello Cimador, Mario Giuffrè, Ingrid Anne Mandy Schierz, Ettore Piro   +8 more
doaj   +1 more source

Congenital Hepatic Fibrosis in a Purebred Spanish Horse Foal: Pathology and Genetic Studies on PKHD1 Gene Mutations

, 2018
A 1-month-old Purebred Spanish Horse (PSH) foal presented with progressive hepatic failure culminating in death. Hepatic lesions were consistent with congenital hepatic fibrosis (CHF). Genetic studies in the PKHD1 gene in the affected foal revealed that
Pedro Pinczowski, Clementina Rodellar, Lluís Luján, Francisco J. Vázquez, Arantzazu Vitoria, Javier Asín, Antonio Romero, Jéssica Molín, Arianne Sanz, Marina Gimeno, Javier Sánchez   +10 more
core   +1 more source

Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease

Physiological Reports
Polycystic kidney diseases (PKD) are genetic disorders which disrupt kidney architecture and function. Autosomal recessive PKD (ARPKD) is a rare form of PKD, caused by mutations in PKHD1, and clinically more severe than the more common autosomal dominant
Lauren G. Russell, Maria Kolatsi‐Joannou, Laura Wilson, Jennifer C. Chandler, Nuria Perretta Tejedor, Georgie Stagg, Karen L. Price, Christopher J. Rowan, Tessa Crompton, Norman D. Rosenblum, Paul J. D. Winyard, David A. Long   +11 more
doaj   +1 more source

PKHD1 gene mutation analysis in two families of perinatal stage autosomal recessive polycystic kidney disease

Linchuang shenzangbing zazhi
Objective To analyze genetic variation in two cases of autosomal recessive polycystic kidney disease （ARPKD） and provide theoretical rationales for its early diagnosis， treatment， genetic counseling and prenatal diagnosis.
Lan Zeng, Qi-yan Wang, Yi Deng, Dan-ni Wang, Shu-yao Zhu, Jin Wang   +5 more
doaj   +1 more source

Prenatal Diagnosis of Isolated Caroli Disease Caused by a Homozygous PKHD1 Variant: A Case Report and Literature Review

Clinical and Experimental Obstetrics & Gynecology
Background: Caroli disease is a rare ductal plate malformation. While most polycystic kidney and hepatic disease 1 (PKHD1)-related biliary phenotypes arise from compound-heterozygous variants, the prenatal implications of homozygous ...
Hai Wang, Zitong Xu, Xianjue Zheng, Haojie Pan, Yimin Wang, Haiying Chen, Zhenzhen Zheng, Hongping Zhang, Jiayong Zheng   +8 more
doaj   +1 more source

Genotype distribution of 2 strongly associated PKHD1 variants.

, 2014
aThis horse was slaughtered before one year of age and the phenotype must be considered as unknown.bThis table summarizes a subset of all horses that were analyzed.
Stéphane Klopfenstein (641491), Monika M. Welle (466270), Michaela Drögemüller (220341), Jens Tetens (132258), Vinzenz Gerber (641490), Pierre-André Poncet (81672), Heidi Signer-Hasler (164244), Stefan Rieder (81673), Claudia Graubner (641488), Vidhya Jagannathan (13914), Cord Drögemüller (132266), Dominik Burger (81671), Georg Thaller (151783), Tosso Leeb (81674), Reto Straub (641489), Ruedi von Niederhäusern (641492)   +15 more
core   +1 more source