Lessons learned from testing cardiac channelopathy and cardiomyopathy genes in individuals who died suddenly: A two‐year prospective study in a large medical examiner’s office with an in‐house molecular genetics laboratory and genetic counseling services
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1157
Abstract: This is a comprehensive review and analysis of 254 cases tested consecutively in the in‐house College of American Pathologist‐accredited molecular genetics laboratory within the New York City Office of Chief Medical Examiner between October 2015… read more here.
Keywords: genetic counseling; genetics; genetics laboratory; molecular genetics ... See more keywords
Clinical application of molecular genetics in lymphatic malformations
Sign Up to like & getrecommendations! Published in 2019 at "Laryngoscope Investigative Otolaryngology"
DOI: 10.1002/lio2.241
Abstract: To describe the clinical presentation of lymphatic malformations (LM) and genotypically associated disorders and to summarize the recent literature regarding the genetic etiology of LM and provide a biologic correlation to medical and surgical management. read more here.
Keywords: lymphatic malformations; genetics; application molecular; molecular genetics ... See more keywords
Molecular Genetics of Kappa Opioids in Pain and Itch Sensations.
Sign Up to like & getrecommendations! Published in 2020 at "Handbook of experimental pharmacology"
DOI: 10.1007/164_2020_397
Abstract: The opioid peptides and their receptors have been linked to multiple key biological processes in the nervous system. Here we review the functions of the kappa opioid receptor (KOR) and its endogenous agonists dynorphins (Goldstein… read more here.
Keywords: genetics kappa; kappa opioids; genetics; molecular genetics ... See more keywords
Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: Molecular Genetics, Disease Mechanisms and Therapeutic Targets.
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DOI: 10.1007/978-3-319-45803-8_7
Abstract: Genetic skeletal diseases (GSDs) are a diverse and complex group of over 450 rare diseases that affect the development and homoeostasis of the skeleton. Although individually rare, as a group of related genetic skeletal diseases,… read more here.
Keywords: pseudoachondroplasia multiple; epiphyseal dysplasia; genetics; molecular genetics ... See more keywords
Phyllotaxis: from classical knowledge to molecular genetics.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of plant research"
DOI: 10.1007/s10265-020-01247-3
Abstract: Plant organs are repetitively generated at the shoot apical meristem (SAM) in recognizable patterns. This phenomenon, known as phyllotaxis, has long fascinated scientists from different disciplines. While we have an enriched body of knowledge on… read more here.
Keywords: classical knowledge; knowledge; phyllotaxis classical; genetics ... See more keywords
Original articleCTNS molecular genetics profile in a Persian nephropathic cystinosis populationPerfil genético molecular del gen CTNS en una población persa con cistinosis nefropática
Sign Up to like & getrecommendations! Published in 2017 at "Nefrologia"
DOI: 10.1016/j.nefro.2016.11.024
Abstract: Purpose In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. read more here.
Keywords: genetics; molecular genetics; gen; articlectns molecular ... See more keywords
Molecular genetics and cellular events of K-Ras-driven tumorigenesis
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DOI: 10.1038/onc.2017.377
Abstract: Cellular transformation and the accumulation of genomic instability are the two key events required for tumorigenesis. K-Ras (Kirsten-rat sarcoma viral oncogene homolog) is a prominent oncogene that has been proven to drive tumorigenesis. K-Ras also… read more here.
Keywords: tumorigenesis; events ras; molecular genetics; genetics ... See more keywords
The role of molecular genetics in livestock production
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DOI: 10.1071/an18013
Abstract: Genetic variations that lead to easy-to-identify phenotypic changes have always been of interest to livestock breeders since domestication. Molecular genetics has opened up possibilities for identifying these variations and understanding their biological and population effects.… read more here.
Keywords: genetics livestock; role molecular; livestock production; molecular genetics ... 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
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China
Sign Up to like & getrecommendations! Published in 2021 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2021.1904417
Abstract: ABSTRACT Purpose: Leber congenital amaurosis (LCA) is one of the earliest inherited retinal dystrophies (IRD) that leads to blindness. To date, there have been 25 LCA-associated genes reported in China as well as other countries.… read more here.
Keywords: genetics; molecular genetics; congenital amaurosis; population ... See more keywords
Molecular genetics of human developmental neurocranial anomalies: towards "precision surgery".
Sign Up to like & getrecommendations! Published in 2022 at "Cerebral cortex"
DOI: 10.1093/cercor/bhac249
Abstract: Recent trio-based whole-exome sequencing studies of congenital hydrocephalus and nonsyndromic craniosynostosis have identified multiple novel disease genes that have illuminated the pathogenesis of these disorders and shed new insight into the genetic regulation of human… read more here.
Keywords: developmental neurocranial; molecular genetics; human developmental; genetics human ... See more keywords