Associated Papers
Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype-Phenotype Correlation.
Mittal S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2026
Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation.
Zhu M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2026
Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review.
Brand MR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Cardio-Respiratory Complications in Adult Monozygotic Twins With Myhre Syndrome.
Sim H et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Thick skin and thicker arteries: case report on a rare cause of hypertension.
Mathew G et al.
Pediatric Nephrology (berlin, Germany), 2025
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).
Lin AE et al.
American Journal of Medical Genetics. Part A, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.
Wood KA et al.
American Journal of Human Genetics, 2024
Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype.
Jury J et al.
Prenatal Diagnosis, 2024
A novel germline SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia.
Kananazawa Y et al.
Japanese Journal of Clinical Oncology, 2023
A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.
Yang K et al.
Molecular Genetics & Genomic Medicine, 2023
Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.
Cowan RW et al.
Clinical and Translational Gastroenterology, 2021
SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome-the Myhre syndrome.
Kandhaya-Pillai R et al.
Geroscience, 2021
Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.
Slezak R et al.
Genes, 2021
Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.
Lin AE et al.
American Journal of Medical Genetics. Part A, 2020
The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity.
Li H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome.
Gürsoy S et al.
Molecular Syndromology, 2020
Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.
Gariballa N et al.
Frontiers in Molecular Biosciences, 2020
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
Lin AE et al.
American Journal of Medical Genetics. Part A, 2016
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Michot C et al.
European Journal of Human Genetics : Ejhg, 2014
Novel SMAD4 mutation causing Myhre syndrome.
Caputo V et al.
American Journal of Medical Genetics. Part A, 2014
From tall to short: the role of TGFβ signaling in growth and its disorders.
Le Goff C et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Clinical application of exome sequencing in undiagnosed genetic conditions.
Need AC et al.
Journal of Medical Genetics, 2012
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
Le Goff C et al.
Nature Genetics, 2011
Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response.
Starr LJ et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.
Alankarage D et al.
Differentiation; Research in Biological Diversity, 0