scholarly journals A rare genetic mutation in a stone former

2021 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
Periandavan Kalaiselvi ◽  
TYashwanth Raj ◽  
Pugazhendhi Kannan ◽  
Sujit Suren ◽  
MEdwin Fernando
Keyword(s):  
Genetic Mutation ◽  
Stone Former

Head and neck paragangliomas: genetic mutation and location of the tumors

2018 ◽  
Author(s):  
Jose-Maria Recio-Cordova ◽  
Cecilia Higueruela ◽  
Rocio Caceres ◽  
Maria Garcia-Duque ◽  
Rogelio Gonzalez-Sarmiento ◽  
...  
Keyword(s):  
Head And Neck ◽  
Genetic Mutation ◽  
Head And Neck Paragangliomas

Cancer Biomarker Discovery for Precision Medicine: New Progress

2020 ◽  
Vol 26 (42) ◽  
pp. 7655-7671 ◽  
Author(s):  
Jinfeng Zou ◽  
Edwin Wang
Keyword(s):  
Precision Medicine ◽  
Cancer Patients ◽  
Clinical Application ◽  
Liquid Biopsy ◽  
Biomarker Discovery ◽  
Deep Understanding ◽  
Genetic Mutation ◽  
Data Driven ◽  
Novel Approaches ◽  
Functional Biomarkers

Background: Precision medicine puts forward customized healthcare for cancer patients. An important way to accomplish this task is to stratify patients into those who may respond to a treatment and those who may not. For this purpose, diagnostic and prognostic biomarkers have been pursued. Objective: This review focuses on novel approaches and concepts of exploring biomarker discovery under the circumstances that technologies are developed, and data are accumulated for precision medicine. Results: The traditional mechanism-driven functional biomarkers have the advantage of actionable insights, while data-driven computational biomarkers can fulfill more needs, especially with tremendous data on the molecules of different layers (e.g. genetic mutation, mRNA, protein etc.) which are accumulated based on a plenty of technologies. Besides, the technology-driven liquid biopsy biomarker is very promising to improve patients’ survival. The developments of biomarker discovery on these aspects are promoting the understanding of cancer, helping the stratification of patients and improving patients’ survival. Conclusion: Current developments on mechanisms-, data- and technology-driven biomarker discovery are achieving the aim of precision medicine and promoting the clinical application of biomarkers. Meanwhile, the complexity of cancer requires more effective biomarkers, which could be accomplished by a comprehensive integration of multiple types of biomarkers together with a deep understanding of cancer.

scholarly journals Epimutation of MMACHC compound to a genetic mutation in cblC cases

2021 ◽  
Author(s):  
Xiaoman Zhang ◽  
Qiong Chen ◽  
Yinsen Song ◽  
Pengbo Guo ◽  
Yanhong Wang ◽  
...  
Keyword(s):  
Genetic Mutation

scholarly journals Genetic mutation in Hirschsprungs/congenital central hypoventilation syndrome

2021 ◽  
Vol 69 ◽  
pp. 101861
Author(s):  
Christina Schreiner ◽  
Elisabeth Ralser ◽  
Christine Fauth ◽  
Ursula Kiechl-Kohlendorfer ◽  
Elke Griesmaier
Keyword(s):  
Genetic Mutation ◽  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

scholarly journals Investigation of ancestral alleles in the Bovinae subfamily

BMC Genomics ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Maulana M. Naji ◽  
Yuri T. Utsunomiya ◽  
Johann Sölkner ◽  
Benjamin D. Rosen ◽  
Gábor Mészáros
Keyword(s):  
Extreme Points ◽  
Genetic Mutation ◽  
Zebu Cattle ◽  
Ancestral State ◽  
Initial State ◽  
High Count ◽  
Environmental Pressures ◽  
Ancestral States ◽  
Productive Traits ◽  
Species Specific

Abstract Background In evolutionary theory, divergence and speciation can arise from long periods of reproductive isolation, genetic mutation, selection and environmental adaptation. After divergence, alleles can either persist in their initial state (ancestral allele - AA), co-exist or be replaced by a mutated state (derived alleles -DA). In this study, we aligned whole genome sequences of individuals from the Bovinae subfamily to the cattle reference genome (ARS.UCD-1.2) for defining ancestral alleles necessary for selection signatures study. Results Accommodating independent divergent of each lineage from the initial ancestral state, AA were defined based on fixed alleles on at least two groups of yak, bison and gayal-gaur-banteng resulting in ~ 32.4 million variants. Using non-overlapping scanning windows of 10 Kb, we counted the AA observed within taurine and zebu cattle. We focused on the extreme points, regions with top 0. 1% (high count) and regions without any occurrence of AA (null count). High count regions preserved gene functions from ancestral states that are still beneficial in the current condition, while null counts regions were linked to mutated ones. For both cattle, high count regions were associated with basal lipid metabolism, essential for survival of various environmental pressures. Mutated regions were associated to productive traits in taurine, i.e. higher metabolism, cell development and behaviors and in immune response domain for zebu. Conclusions Our findings suggest that retaining and losing AA in some regions are varied and made it species-specific with possibility of overlapping as it depends on the selective pressure they had to experience.

scholarly journals Prenatal Sonographic Features of CHARGE Syndrome

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 415
Author(s):  
Kuntharee Traisrisilp ◽  
Wisit Chankhunaphas ◽  
Rekwan Sittiwangkul ◽  
Chureerat Phokaew ◽  
Vorasuk Shotelersuk ◽  
...  
Keyword(s):  
De Novo ◽  
Heart Defects ◽  
Molecular Genetic ◽  
Choanal Atresia ◽  
Charge Syndrome ◽  
Acoustic Stimulation ◽  
Genetic Mutation ◽  
Suspected Case ◽  
Autosomal Dominant Disorder ◽  
Canal Stenosis

CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. Finally, molecular genetic testing by whole exome sequencing of the neonate and her parents revealed a novel de novo heterozygous frameshift c.3506_3509dup variant in the CHD7 gene, confirming the clinical diagnosis of CHARGE syndrome. In conclusion, we describe unique prenatal features of CHARGE syndrome. Educationally, this is one of the rare examples of CHARGE syndrome, comprising all of the six specific anomalies as originally described; it is also supported by the identification of a specific genetic mutation. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of CHD7. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers.

scholarly journals Diagnosis of hereditary Angioedema by genetic mutation of coagulation factor XII

2021 ◽  
Vol 147 (2) ◽  
pp. AB23
Author(s):  
Natasha Ferraroni ◽  
Gabriela Yoshimoto ◽  
Camila Veronez ◽  
Luiza Silva ◽  
Marina Batista ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Coagulation Factor ◽  
Genetic Mutation ◽  
Factor Xii
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