Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant.

Scientific reports - 30 Dec 2024

Budhwar Vijay, Dutta Susmita, Pandit Kaushik, Mukhopadhyay Pradip, Bhattacharyya Nitai P, Ghosh Sujoy

Abstract excerpt

Panel of known genetic mutations (SPINK1, PRSS1, PRSS2, CTRC, and CFTR) in patients with Fibrocalcific pancreatic diabetes (FCPD)compared to Type 2 Diabetes (T2DM) and healthy controls with emphasis on SPINK1 (N34S) mutations. Whole blood samples were used to detect mutations by PCR followed by Sanger sequencing. In-silico analysis of N34S performed, to explore role in pathogenesis. Isolated SPINK1 N34S mutations...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Case-Control Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diabetes Mellitus, Type 2

Share to Genetic Predisposition to Disease

Share to Mutation

Share to Trypsin Inhibitor, Kazal Pancreatic

Source

Open in PubMed Open full text

Identifiers

PMID: 39738564
DOI: 10.1038/s41598-024-83113-z
PMCID: PMC11686347

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant.PMID 39738564Read ↗

[194 + 2T>C;-215G>A] mutation of SPINK1 gene is associated with fibrocalculous pancreatic diabetes: A rare case report.Semantic proximity Read ↗

SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent.Semantic proximity Read ↗

Genetic Investigations in Turkish Idiopathic Pancreatitis Patients Show Unique Characteristics.Semantic proximity Read ↗

Hereditary Pancreatitis Related to SPINK-1 Mutation. Is There an Increased Risk of Developing Pancreatic Cancer?Semantic proximity Read ↗

Diagnosis, treatment and genetic analysis of a case with fibrocalculous pancreatic diabetes.Semantic proximity Read ↗

Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis.Semantic proximity Read ↗

Mutations N34S and P55S of the SPINK1 gene in patients with chronic pancreatitis or pancreatic cancer and in healthy subjects: a report from Finland.Semantic proximity Read ↗

Frequency of CFTR, SPINK1, and cathepsin B gene mutation in North Indian population: connections between genetics and clinical data.Semantic proximity Read ↗

Meta-analysis of the impact of SPINK1 p.N34S gene variation in Caucasic patients with chronic pancreatitis. An update.Semantic proximity Read ↗

A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.Semantic proximity Read ↗

Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S) variants.Semantic proximity Read ↗

A high prevalence of genetic polymorphisms in idiopathic and alcohol-associated chronic pancreatitis patients in Ireland.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.