Variant Curation is Crucial to Claim Digenic Inheritance in Juvenile Open Angle Glaucoma [0.03%]
青少年型原发性开角型青光眼双基因遗传说法需谨慎
Kok-Siong Poon,Karen Mei-Ling Tan
Kok-Siong Poon
Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene [0.03%]
以KCNC3基因突变为表现的脊小脑共济失调13例的最初症状为踮脚行走
David Pomarino,Johanna Ronja Thren,Anneke Thren et al.
David Pomarino et al.
This article at hand described a 4-year-old child patient who initially presented with the symptoms of toe walking. As part of the diagnostic process, the patient was genetically tested to find the cause of the gait anomaly. The genetic tes...
Emine Ikbal Atli,Engin Atli,Sinem Yalcintepe et al.
Emine Ikbal Atli et al.
Objective A significant number of genetic variations have been identified in chromosome 22, using molecular genetic techniques. Various genomic disorders on chromosome 22, including cat's eye syndrome caused by extra copies of the proximal ...
Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India [0.03%]
印度R1/LGMD 2A患者大样本队列中的疾病进展和突变模式
Valakunja H Ganaraja,Kiran Polavarapu,Mainak Bardhan et al.
Valakunja H Ganaraja et al.
Calpainopathy is caused by mutations in the CAPN3 . There is only one clinical and genetic study of CAPN3 from India and none from South India. A total of 72 (male[M]:female [F] = 34:38) genetically confirmed probands from 72 independent fa...
Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period [0.03%]
产前先天性心脏病的遗传学改变研究
Emine Ikbal Atli,Engin Atli,Sinem Yalcintepe et al.
Emine Ikbal Atli et al.
The prenatal diagnosis of congenital heart disease (CHD) is important because of mortality risk. The onset of CHD varies, and depending on the malformation type, the risk of aneuploidy is changed. To identify possible genetic alterations in...
Aysel Kalayci Yigin,Mehmet Bugrahan Duz,Mehmet Seven
Aysel Kalayci Yigin
Background Cleidocranial dysplasia (CCD, #MIM119600) is an autosomal-dominant skeletal dysplasia characterized by delayed closure of the cranial sutures, aplasia, or hypoplasia of the clavicles and dental abnormalities. These findings were ...
Rajat Hegde,Smita Hegde,Suyamindra S Kulkarni et al.
Rajat Hegde et al.
Background Autism is one of the most complex, heterogeneous neurological disorders. It is characterized mainly by abnormal communication, impaired social interaction, and restricted behaviors. Prevalence of autism is not clear in Indian pop...
From Genetics to Epigenetics: Top 4 Aspects for Improved SARS-CoV-2 Vaccine Designs as Paradigmatic Examples [0.03%]
从基因学到表观遗传学：作为范例的改善SARS-CoV-2疫苗设计的前四个方面
Darja Kanduc
Darja Kanduc
This literature review described the genetic and biochemical factors that may have been overlooked in the formulation of vaccines and that most likely underlie possible issues with mass vaccination. ...
Asli Aykac,Rasime Kalkan
Asli Aykac
Posttraumatic stress disorder (PTSD) is a stress-related mental disorder and develops after exposure to life-threatening traumatic experiences. The risk factors of PTSD included genetic factors; alterations in hypothalamic-pituitary-adrenal...
Ziya Ozturkler,Rasime Kalkan
Ziya Ozturkler
Coronavirus disease 2019 (COVID-2019) started in Wuhan, China, in December 2019. Angiotensin-converting enzyme 2 (ACE2) receptor was one of the most important genes related to the entrance of the virus to the host. Until now, several variat...