Associated Papers
Metreleptin In SHORT Syndrome With Uncontrolled Diabetes.
Korakas E et al.
Jcem Case Reports, 2025
Two Cases of Severe Insulin Resistance in Pregnancy: A New Diagnosis of INSR Variant and a Patient with SHORT Syndrome.
L'Amie AK et al.
Jcem Case Reports, 2025
Management of pregnancy with metformin: Case reports for genetic insulin resistance syndrome and a literature review for gestational and type 2 diabetes.
Yoshimura K et al.
Journal of Diabetes Investigation, 2025
Identification of A Novel Mutation of SHORT Syndrome: A Case Report.
Huynh QTV et al.
Clinical Case Reports, 2025
PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis.
Takayoshi T et al.
Journal of Diabetes Investigation, 2025
A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes.
Tajima K et al.
Journal of Diabetes Investigation, 2025
CoDIAC: A comprehensive approach for interaction analysis reveals novel insights into SH2 domain function and regulation.
Kandoor A et al.
Biorxiv : the Preprint Server for Biology, 2025
Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.
Zhou Q et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
KBTBD2 controls bone development by regulating IGF-1 signaling during osteoblast differentiation.
Xun Y et al.
Cell Death and Differentiation, 2025
Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant.
Tomlinson PR et al.
Elife, 2025
[A rare case of PIK3R1 gene mutation associated SHORT syndrome].
Zhang X et al.
Zhonghua Nei Ke Za Zhi, 2025
Cancer-Associated PIK3R1 Genetic Aberrations and Precision Medicine.
Xie H et al.
International Journal of Medical Sciences, 2025
Diabetes mellitus in SHORT syndrome managed with multi-agent oral therapies: a case report and literature review.
Yang Y et al.
Therapeutic Advances in Endocrinology and Metabolism, 2025
Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant.
Tomlinson PR et al.
Biorxiv : the Preprint Server for Biology, 2024
Unveiling the role of PIK3R1 in cancer: A comprehensive review of regulatory signaling and therapeutic implications.
Gupta I et al.
Seminars in Cancer Biology, 2024
A long way to syndromic short stature.
Gaudioso F et al.
Italian Journal of Pediatrics, 2024
Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.
Reis LM et al.
Progress in Retinal and Eye Research, 2024
Alterations of the AKT Pathway in Sporadic Human Tumors, Inherited Susceptibility to Cancer, and Overgrowth Syndromes.
Menges CW et al.
Current Topics in Microbiology and Immunology, 2024
Dynamic molecular architecture and substrate recruitment of cullin3-RING E3 ligase CRL3KBTBD2.
Hu Y et al.
Nature Structural & Molecular Biology, 2024
Atypical diabetes arising from SHORT syndrome: a case report.
Wang A et al.
Frontiers in Endocrinology, 2024
The Role of PIK3R1 in Metabolic Function and Insulin Sensitivity.
Tsay A et al.
International Journal of Molecular Sciences, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum.
Shvalb NF
Current Diabetes Reports, 2022
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
SHORT Syndrome: Systematic Appraisal of the Medical and Dental Phenotype.
Mubeen S et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2022
SHORT syndrome in an adult Brazilian patient.
Gonçalves ACG et al.
American Journal of Medical Genetics. Part A, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up.
Yin X et al.
Journal of Diabetes Investigation, 2021
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature.
Lee CL et al.
Molecular Genetics and Metabolism Reports, 2021
Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review.
Masunaga Y et al.
Endocrine Journal, 2021
Premature aging disorders: A clinical and genetic compendium.
Schnabel F et al.
Clinical Genetics, 2021
Insulin resistance and exaggerated insulin sensitivity triggered by single-gene mutations in the insulin signaling pathway.
Kushi R et al.
Diabetology International, 2021
Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report.
Kim SH et al.
Frontiers in Pediatrics, 2021
Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.
Thouenon R et al.
Frontiers in Pediatrics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature.
Sun L et al.
Bmc Medical Genetics, 2020
Truncation of Pik3r1 causes severe insulin resistance uncoupled from obesity and dyslipidaemia by increased energy expenditure.
Kwok A et al.
Molecular Metabolism, 2020
APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant.
Ramirez L et al.
Journal of Clinical Immunology, 2020
SHORT syndrome in two Chinese girls: A case report and review of the literature.
Zhang Y et al.
Molecular Genetics & Genomic Medicine, 2020
Clinical characteristics of insulin resistance syndromes: A nationwide survey in Japan.
Takeuchi T et al.
Journal of Diabetes Investigation, 2020
PIK3R1W624R Is an Actionable Mutation in High Grade Serous Ovarian Carcinoma.
D'Ambrosio C et al.
Cells, 2020
Defining How Oncogenic and Developmental Mutations of PIK3R1 Alter the Regulation of Class IA Phosphoinositide 3-Kinases.
Dornan GL et al.
Structure (london, England : 1993), 2020
Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort.
Gonzaga-Jauregui C et al.
Diabetes, 2020
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
Grelet M et al.
Orphanet Journal of Rare Diseases, 2019
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019