KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2127
Abstract: KBG syndrome is a rare genetic disorder involving macrodontia of the upper central incisors, craniofacial, skeletal, and neurologic symptoms, caused either by a heterozygous variant in ANKRD11 or deletion of 16q24.3, including ANKRD11. Diagnostic criteria… read more here.
Keywords: kbg syndrome; findings seven; molecular findings; syndrome clinical ... See more keywords
Inulin and its enzymatic production by inulosucrase: Characteristics, structural features, molecular modifications and applications.
Sign Up to like & getrecommendations! Published in 2019 at "Biotechnology advances"
DOI: 10.1016/j.biotechadv.2019.01.002
Abstract: Inulin, a natural fructan, cannot be hydrolyzed by digestive enzymes in the human body and plays a role as a dietary fiber and prebiotic. Due to its versatile physicochemical properties and physiological functions, inulin has… read more here.
Keywords: molecular modifications; inulosucrase; characteristics structural; features molecular ... See more keywords
Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1418389
Abstract: ABSTRACT Achromatopsia is an autosomal recessive condition, characterised by reduced visual acuity, impaired colour vision, photophobia and nystagmus. The symptoms can be profoundly disabling, and there is no cure currently available. However, the recent development… read more here.
Keywords: clinical features; genetics; molecular genetics; features molecular ... See more keywords
Clinical features, molecular aberrations, treatments, and outcomes in histiocytic sarcoma.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2019.37.15_suppl.7020
Abstract: 7020 Background: Histiocytic sarcoma (HS) is a rare and aggressive malignancy of the monocyte/macrophage lineage. There is a paucity of data on treatments and outcomes in HS. Methods: This is a retrospective study of patients… read more here.
Keywords: features molecular; multifocal disease; histiocytic sarcoma; clinical features ... See more keywords
COVID-19 in Elderly Adults: Clinical Features, Molecular Mechanisms, and Proposed Strategies
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DOI: 10.14336/ad.2020.0903
Abstract: Coronavirus disease 2019 (COVID-19) is causing problems worldwide. Most people are susceptible to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), but elderly populations are more susceptible. Elevated susceptibility and death rates in elderly COVID-19 patients,… read more here.
Keywords: features molecular; molecular mechanisms; clinical features; adults clinical ... See more keywords
Prognostic Impact of Pathologic Features in Molecular Subgroups of Endometrial Carcinoma
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm13050723
Abstract: The molecular characterization of endometrial carcinoma (EC) has recently been included in the ESGO/ESTRO/ESP guidelines. The study aims to evaluate the impact of integrated molecular and pathologic risk stratification in the clinical practice and the… read more here.
Keywords: endometrial carcinoma; molecular subgroups; impact; pathologic ... See more keywords