Associated Papers
Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population.
Hao N et al.
Human Genomics, 2026
Early-Onset Fibrocalculous Pancreatic Diabetes Associated With SPINK1 Variants In Trans: A Rare Genetic Case.
Kostrzewska P et al.
Diabetes Care, 2026
Expanding the ethnic and geographic spectrum of hereditary pancreatitis: first report of a Tibetan case with compound SPINK1 variants.
Chen Y et al.
Hepatobiliary Surgery and Nutrition, 2025
Comparison of clinical features and pancreatic cancer risk between genetic mutations associated versus alcohol associated chronic pancreatitis.
Lee Y et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2025
Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis.
Chen Y et al.
Bmc Pregnancy and Childbirth, 2025
[194 + 2T>C;-215G>A] mutation of SPINK1 gene is associated with fibrocalculous pancreatic diabetes: A rare case report.
Li Y et al.
Medicine, 2025
SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges.
Wang YC et al.
American Journal of Human Genetics, 2025
PRSS1, SPINK1 Mutations and Associated Factors in Vietnamese Patients With Chronic Pancreatitis.
Vo TTL et al.
Jgh Open : an Open Access Journal of Gastroenterology and Hepatology, 2025
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
[Clinical and genetic characteristics of fibrocalculous pancreatic diabetes associated with SPINK1 gene mutations in a patient with type 1 diabetes].
Zhao WX et al.
Zhonghua Nei Ke Za Zhi, 2025
Germline mutations and pancreatic cancer risk in chronic pancreatitis.
Wu H et al.
Gut, 2025
Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer.
Wang QW et al.
Human Genomics, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing.
Cheo SW et al.
Esmo Open, 2025
Comprehensive characterization of early-onset lung cancer, in Chinese young adults.
Tian Y et al.
Nature Communications, 2025
Case Report: a family report of hereditary pancreatitis caused by SPINK1 and PRSS1 gene mutations.
Xu J et al.
Frontiers in Genetics, 2025
Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant.
Budhwar V et al.
Scientific Reports, 2024
The Clinicopathological and Molecular Characteristics of Endocervical Gastric-Type Adenocarcinoma and the Use of Claudin18.2 as a Potential Therapeutic Target.
Yang J et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2024
Clinical application of whole exome sequencing for recurrent early pregnancy loss.
Liu C et al.
Asian Journal of Surgery, 2024
Heterozygous Spink1 c.194+2T>C mutation promotes chronic pancreatitis after acute attack in mice.
Liu M et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024
Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty.
Han M et al.
Molecular Genetics & Genomic Medicine, 2024
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Genetic Factors Associated With Adverse Pregnancy Outcomes in Chronic Pancreatitis.
Wu D et al.
Clinical and Translational Gastroenterology, 2024
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.
Wu H et al.
Human Genomics, 2024
Heterozygous Spink1 Deficiency Promotes Trypsin-dependent Chronic Pancreatitis in Mice.
Demcsák A et al.
Cellular and Molecular Gastroenterology and Hepatology, 2024
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Acute pancreatitis following asparaginase treatment in pediatric acute lymphoblastic leukemia with a heterozygous SPINK1 c.194 + 2T>C intronic variant: a case report.
Zhou H et al.
Frontiers in Pediatrics, 2024
Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.
Khan E et al.
Global Medical Genetics, 2023
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.
Zhang L et al.
Journal of Human Genetics, 2023
Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot.
Pan Y et al.
Translational Pediatrics, 2023
Prevalence and Risk Factors of Germline Pathogenic Variants in Pancreatic Ductal Adenocarcinoma.
Ryu KH et al.
Cancer Research and Treatment, 2023
The Spectrum of Germline Nucleotide Variants in Gastric Cancer Patients in the Kyrgyz Republic.
Bilyalov A et al.
Current Issues in Molecular Biology, 2023
The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.
Hirai S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2023
Genetic determinants of pancreatitis: relevance in severe hypertriglyceridemia.
Hang SMT et al.
Current Opinion in Lipidology, 2023
Identification of novel factors that affect the onset of idiopathic chronic pancreatitis: The role for microRNA-323b-5p.
Sun C et al.
The Journal of Gene Medicine, 2023
[Influence of environmental factors and polymorphic loci rs6580502 of the SPINK1 gene, rs10273639 of the PRSS1 gene, rs213950 of the CFTR gene on the risk of developing acute alcoholic-alimentary pancreatitis].
Samgina TA
Voprosy Pitaniia, 2023
Diagnostic rate of germline pathogenic variants in pancreatic ductal adenocarcinoma patients using whole genome sequencing.
Chung AK et al.
Frontiers in Genetics, 2023
Spectrum of PRSS1, SPINK1, CTRC, CFTR, and CPA1 Gene Variants in Chronic Pancreatitis Patients in Russia.
Litvinova MM et al.
Sovremennye Tekhnologii V Meditsine, 2023
Case report: Targeted sequencing facilitates the diagnosis and management of rare multifocal pure ground-glass opacities with intrapulmonary metastasis.
Yang Y et al.
Frontiers in Oncology, 2023
Diagnosis, treatment and genetic analysis of a case with fibrocalculous pancreatic diabetes.
Shen M et al.
Yi Chuan = Hereditas, 2022
Clinical and Genetic Characteristics of a Cohort with Distal Vaginal Atresia.
Kang J et al.
International Journal of Molecular Sciences, 2022
Chronic pancreatitis caused by a Homozygous SPINK1 c.194 + 2T > C variant and Pancreas Divisum in a 3-year-old child-case report.
Zdanowicz K et al.
Journal of Pediatric Genetics, 2022
Expanding ACMG variant classification guidelines into a general framework.
Masson E et al.
Human Genomics, 2022
Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene.
Rygiel AM et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022