Khadija El Jellas
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View article: 8182 New Mouse Model Mirrors Human MODY8: Opening Doors to Understanding Exocrine-Endocrine Crosstalk in the Diabetic Pancreas
8182 New Mouse Model Mirrors Human MODY8: Opening Doors to Understanding Exocrine-Endocrine Crosstalk in the Diabetic Pancreas Open
Disclosure: K. El Jellas: None. V. Salerno: None. L.S. Katz: None. J. Hu: None. G. Fogarty: None. A. Mandal: None. A. DiStefano-Forti: None. D. Scott: None. M. Lowe: None. A. Molven: None. R.N. Kulkarni: None. Maturity-onset diabetes of th…
View article: 8066 Compensatory Signatures of Islet Cells That Protect Obese Humans From Diabetes
8066 Compensatory Signatures of Islet Cells That Protect Obese Humans From Diabetes Open
Disclosure: H. Kim: None. Y. Li: None. H. Zhu: None. K. El Jellas: None. N. Shukla: None. Z. Ren: None. K. Fukuda: None. M. Chen: None. R. Kulkarni: Advisory Board Member; Self; Novo Nordisk, Inversago, Biomea, REDD. The increasing prevale…
View article: Common single-base insertions in the VNTR of the carboxyl ester lipase (<i>CEL</i>) gene are benign and also likely to arise somatically in the exocrine pancreas
Common single-base insertions in the VNTR of the carboxyl ester lipase (<i>CEL</i>) gene are benign and also likely to arise somatically in the exocrine pancreas Open
The CEL gene encodes carboxyl ester lipase, a pancreatic digestive enzyme. CEL is extremely polymorphic due to a variable number tandem repeat (VNTR) located in the last exon. Single-base deletions within this VNTR cause the inherited diso…
View article: Deficiency of the metabolic enzyme SCHAD in pancreatic β-cells promotes amino acid–sensitive hypoglycemia
Deficiency of the metabolic enzyme SCHAD in pancreatic β-cells promotes amino acid–sensitive hypoglycemia Open
View article: The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice
The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice Open
We have developed a new mouse model for CP that confirms the pathogenicity of the human CEL-HYB1 variant. Our findings place CEL-HYB1 in the group of genes that increase CP risk through protein misfolding-dependent pathways.
View article: Fat Malabsorption and Ursodeoxycholic Acid Treatment in Children With Reduced Organic Solute Transporter‐α (<i>SLC51A</i>) Expression
Fat Malabsorption and Ursodeoxycholic Acid Treatment in Children With Reduced Organic Solute Transporter‐α (<i>SLC51A</i>) Expression Open
Objectives: A bile acid homeostasis disorder was suspected in 2 siblings and their second cousin who presented in infancy with fat malabsorption, severe fat‐soluble vitamin deficiency, rickets, and mild liver involvement. Our aims were to …
View article: Two New Mutations in the <i>CEL</i> Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases
Two New Mutations in the <i>CEL</i> Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases Open
Context Maturity onset diabetes of the young, type 8 (MODY8) is associated with mutations in the CEL gene, which encodes the digestive enzyme carboxyl ester lipase. Several diabetes cases and families have in recent years been attributed t…
View article: The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity
The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity Open
View article: Supplementary Table 1
Supplementary Table 1 Open
Diabetes Cohorts screened for CEL mutations.
View article: Online supplemental material to: Two new mutations in the CEL gene causing diabetes and hereditary pancreatitis: How to correctly identify MODY8 cases.
Online supplemental material to: Two new mutations in the CEL gene causing diabetes and hereditary pancreatitis: How to correctly identify MODY8 cases. Open
Supplementary table containing clinical information for the diabetes cohorts screened for mutations in the CEL gene.
View article: The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (<i>CEL</i>) gene determines pathogenicity
The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (<i>CEL</i>) gene determines pathogenicity Open
Variable number of tandem repeat (VNTR) sequences present in the genome can have functional consequences that contribute to human disease. This is the case for the CEL gene, which encodes the digestive enzyme carboxyl ester lipase. CEL has…
View article: Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells
Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells Open
Mutations in the gene encoding the digestive enzyme carboxyl ester lipase (CEL) are linked to pancreatic disease. The CEL variant denoted CEL-HYB predisposes to chronic pancreatitis, whereas the CEL-MODY variant causes MODY8, an inherited …
View article: Mutation analysis by deep sequencing of pancreatic juice from patients with pancreatic ductal adenocarcinoma
Mutation analysis by deep sequencing of pancreatic juice from patients with pancreatic ductal adenocarcinoma Open
View article: The mucinous domain of pancreatic carboxyl-ester lipase (CEL) contains core 1/core 2 O-glycans that can be modified by ABO blood group determinants
The mucinous domain of pancreatic carboxyl-ester lipase (CEL) contains core 1/core 2 O-glycans that can be modified by ABO blood group determinants Open
Carboxyl-ester lipase (CEL) is a pancreatic fat-digesting enzyme associated with human disease. Rare mutations in the CEL gene cause a syndrome of pancreatic exocrine and endocrine dysfunction denoted MODY8, whereas a recombined …
View article: Associations between <scp>ABO</scp> blood groups and pancreatic ductal adenocarcinoma: influence on resection status and survival
Associations between <span>ABO</span> blood groups and pancreatic ductal adenocarcinoma: influence on resection status and survival Open
Both serology‐based and genetic studies have reported an association between pancreatic cancer risk and ABO blood groups. We have investigated this relationship in a cohort of pancreatic cancer patients from Western Norway ( n = 237) and t…
View article: Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer
Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer Open