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Academic Journal

Genetic investigation of point mutations in sarcomeric genes in Malaysian patients with cardiomyopathy.

Authors : Tan, E-Wei; Chua, Kek Heng; Jones, Sherry Usun

Subjects: CARDIOMYOPATHIES; HYPERTROPHIC cardiomyopathy; DILATED cardiomyopathyMALAYSIA

Source: ScienceAsia; Apr2023, Vol. 49 Issue 2, p240-247, 12p

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Academic Journal

Cancer-Predisposition Genetic Analysis in Children with Brain Tumors Treated at a Single Institution in Japan.

Authors : Fukushima H; Department of Pediatrics, University of Tsukuba Hospital, Ibaraki, Japan.; Department of Child Health, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.

Subjects: Genetic Predisposition to Disease* ; Mutation*; Brain Neoplasms/Brain Neoplasms/Brain Neoplasms/*genetics

Source: Oncology [Oncology] 2022; Vol. 100 (3), pp. 163-172. Date of Electronic Publication: 2021 Dec 27.Publisher: Karger Country of Publication: Switzerland NLM ID: 0135054 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1423-0232

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Academic Journal

Spexin gene polymorphism in type 2 diabetes mellitus patients of South Indian population.

Authors : Gowdu, Tejaswi; doddaiah, Dayanand Chikkanayacanahalli; Balakrishna, Sharath

Subjects: TYPE 2 diabetes; INDIANS (Asians); PEOPLE with diabetes

Source: Romanian Journal of Diabetes Nutrition & Metabolic Diseases; 2021, Vol. 28 Issue 4, p407-417, 11p

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Academic Journal

Mutations of DNAJC7 are rare in Chinese amyotrophic lateral sclerosis patients.

Authors : Sun, Xiaohan; Zhao, Ximeng; Liu, Qing

Subjects: AMYOTROPHIC lateral sclerosis; FRONTOTEMPORAL dementia; NEURODEGENERATION

Source: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration; May2021, Vol. 22 Issue 3/4, p312-315, 4p

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Academic Journal

Genotype and phenotype analysis of a cohort of patients with congenital hyperinsulinism based on DOPA-PET CT scanning.

Authors : Ni, Jinwen (AUTHOR); Ge, Jingjie (AUTHOR); Zhang, Miaoying (AUTHOR)

Subjects: DRUG side effects; FAMILIAL spastic paraplegia; HYPERINSULINISM

Source: European Journal of Pediatrics. Aug2019, Vol. 178 Issue 8, p1161-1169. 9p. 2 Diagrams, 2 Charts.

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Academic Journal

KRAS, BRAF, PIK3CA mutation frequency of radical prostatectomy samples and review of the literature.

Authors : Bahcivan, Atike; Gamsizkan, Mehmet; Kantarcioglu Coskun, Sinem

Subjects: RADICAL prostatectomy; BRAF genes; LITERATURE reviews

Source: Aging Male; Dec2020, Vol. 23 Issue 5, p1627-1641, 15p

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Academic Journal

Frequency and Prognostic Value of IDH Mutations in Korean Patients With Cholangiocarcinoma.

Authors : Kim, Nah Ihm; Noh, Myung-Giun; Kim, Jo-Heon

Subjects: ISOCITRATE dehydrogenase; CHOLANGIOCARCINOMA; ASIANS

Source: Frontiers in Oncology; 8/18/2020, Vol. 10, pN.PAG-N.PAG, 11p

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Academic Journal

Identification of a novel cystic fibrosis mutation in three patients of South Asian descent.

Authors : Semple, Aisling^1,2 (AUTHOR) ; Clark, Tara³ (AUTHOR); Allen, Nicholas M.^1,2 (AUTHOR)

Subjects: *SOUTH Asians; *CYSTIC fibrosis; *GENETIC testingINDIA

Source: Clinical Respiratory Journal. Jun2020, Vol. 14 Issue 6, p586-588. 3p.

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Academic Journal

Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.

Authors : Hong-Joon Park¹; Hyun-Ju Cho²; Jeong-In Baek²

Subjects: *HEARING disorders; *EAST Asians; *GENETIC mutationCHINA

Source: Journal of Human Genetics. Jan2010, Vol. 55 Issue 1, p59-62. 4p.

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Academic Journal

Role of p53 Gene in Breast Cancer: Focus on Mutation Spectrum and Therapeutic Strategies.

Authors : Kaur RP; Department of Human Genetics and Molecular Medicine, Central University of Punjab, Bathinda, 151001, India.; Vasudeva K

Subjects: Mutation*; Antineoplastic Agents/Antineoplastic Agents/Antineoplastic Agents/*pharmacology ; Antineoplastic Agents/Antineoplastic Agents/Antineoplastic Agents/*therapeutic use

Source: Current pharmaceutical design [Curr Pharm Des] 2018; Vol. 24 (30), pp. 3566-3575.Publisher: Bentham Science Publishers Country of Publication: United Arab Emirates NLM ID: 9602487 Publication Model: Print Cited Medium: Internet

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