Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations
Sign Up to like & getrecommendations! Published in 2020 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2019.20415
Abstract: This cohort study assesses whether copy number variations are associated with specific phenotypes in patients with germline PTEN mutations. read more here.
Keywords: copy number; number variation; patients germline; pten mutations ... See more keywords
Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Biomolecular Structure and Dynamics"
DOI: 10.1080/07391102.2018.1465854
Abstract: Individuals with germline mutations in the tumor suppressor gene phosphatase and tensin homolog (PTEN), irrespective of clinical presentation, are diagnosed with PTEN hamartoma tumor syndrome (PHTS). PHTS confers a high risk of breast, thyroid, and… read more here.
Keywords: pten mutations; cancer; associated cancer; germline pten ... See more keywords
A family with PTEN mutations with malignancy and an unusually high number of offspring with autism spectrum disorder: a case report
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Medical Case Reports"
DOI: 10.1186/s13256-018-1863-0
Abstract: BackgroundCowden’s syndrome (OMIM:158350), a rare genetic disorder (incidence ~ 1:250,000), is caused by mutations of the tumor suppressor gene PTEN. In this report, we describe clinical manifestations of a 56-year-old patient diagnosed with Cowden’s syndrome and… read more here.
Keywords: pten mutations; autism spectrum; spectrum disorder; family ... See more keywords
184 PTEN Mutations Portend Cerebral Ventriculomegaly With Autism-Like Deficits in Cortical Circuitry
Sign Up to like & getrecommendations! Published in 2024 at "Neurosurgery"
DOI: 10.1227/neu.0000000000002809_184
Abstract: INTRODUCTION: Fetal ventriculomegaly, the most common antenatally-diagnosed brain abnormality, is the defining feature of congenital hydrocephalus (CH). Fetal ventriculomegaly is also an overlooked associated finding in neuropsychiatric disorders, including autism spectrum disorder (ASD), which is… read more here.
Keywords: autism like; ventriculomegaly; 184 pten; gene ... See more keywords
PTEN mutations as predictive marker for the high-grade endometrial cancer development in slovak women.
Sign Up to like & getrecommendations! Published in 2022 at "Physiological research"
DOI: 10.33549/physiolres.935030
Abstract: Endometrial carcinoma (ECa) is one of the most common neoplasia of the female genital tract. The phosphatase and tensin (PTEN) homolog is the most frequently mutated tumor suppressor gene in endometrial carcinoma. PTEN encodes a… read more here.
Keywords: pten mutations; endometrial carcinoma; mutations predictive; predictive marker ... See more keywords
PTEN Mutations Associated with Increased Recurrence and Decreased Survival in Patients with Prostate Cancer Spinal Metastasis
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DOI: 10.3390/curroncol32060331
Abstract: Introduction: Prostate cancer with spinal metastases (PCSM) is associated with high morbidity and mortality. The impact of biomarkers on the prognosis of spinal metastases, however, remains unclear. Objective: This study explored associations between potential biomarkers,… read more here.
Keywords: mutations associated; associated increased; metastasis; spinal metastasis ... See more keywords