Expansion of the genetic landscape of ERLIN2‐related disorders
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51007
Abstract: ERLIN2‐related disorders are rare conditions of the motor system and clinical details are limited to a small number of prior descriptions. We here presented clinical and genetic details in five individuals (four different families) where… read more here.
Keywords: landscape erlin2; expansion genetic; erlin2 related; genetic landscape ... See more keywords
Exploring the shared genetic landscape of diabetes and cardiovascular disease: findings and future implications
Sign Up to like & getrecommendations! Published in 2025 at "Diabetologia"
DOI: 10.1007/s00125-025-06403-9
Abstract: Diabetes is a rapidly growing global health concern projected to affect one in eight adults by 2045, which translates to roughly 783 million people. The profound metabolic alterations often present in dysglycaemia significantly increase the… read more here.
Keywords: disease; diabetes cardiovascular; shared genetic; cardiovascular complications ... See more keywords
Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes
Sign Up to like & getrecommendations! Published in 2017 at "Human Genetics"
DOI: 10.1007/s00439-017-1759-x
Abstract: China has repeatedly been the subject of genetic studies to elucidate its prehistoric and historic demography. While some studies reported a genetic distinction between Northern and Southern Han Chinese, others showed a more clinal picture… read more here.
Keywords: revisiting male; china; genetic landscape; han ... See more keywords
Deciphering the genetic landscape of pulmonary lymphomas
Sign Up to like & getrecommendations! Published in 2020 at "Modern Pathology"
DOI: 10.1038/s41379-020-00660-2
Abstract: Pulmonary lymphoid malignancies comprise various entities, 80% of them are pulmonary marginal zone B-cell lymphomas (PMZL). So far, little is known about point mutations in primary pulmonary lymphomas. We characterized the genetic landscape of primary… read more here.
Keywords: pmzl; pulmonary lymphomas; landscape; case ... See more keywords
The genetic landscape of substance use disorders
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Psychiatry"
DOI: 10.1038/s41380-024-02547-z
Abstract: Substance use disorders represent a significant public health concern with considerable socioeconomic implications worldwide. Twin and family-based studies have long established a heritable component underlying these disorders. In recent years, genome-wide association studies of large,… read more here.
Keywords: substance use; landscape substance; genetic landscape; use disorders ... See more keywords
Genetic landscape and evolution of Acinetobacter pittii, an underestimated emerging nosocomial pathogen
Sign Up to like & getrecommendations! Published in 2025 at "Communications Biology"
DOI: 10.1038/s42003-025-08156-y
Abstract: As a member of Acinetobacter calcoaceticus-baumannii complex, Acinetobacter pittii has been an emerging concern in nosocomial infection due to its increasing prevalence and multidrug resistance (MDR). However, its population structure remains broadly unknown, hampering efficient… read more here.
Keywords: acinetobacter pittii; acinetobacter; pittii; genetic landscape ... See more keywords
Molecular Genetic Landscape of Sclerosing Pneumocytomas.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of clinical pathology"
DOI: 10.1093/ajcp/aqaa136
Abstract: OBJECTIVES Sclerosing pneumocytomas are rare pulmonary neoplasms that are typically benign. However, rare patients experience progressive disease, and therapy targeting specific genetic underpinnings could be an attractive therapeutic option. Recent studies have found recurrent AKT… read more here.
Keywords: mtor pathway; sclerosing pneumocytomas; molecular genetic; landscape sclerosing ... See more keywords
Insights into the genetic landscape of pheochromocytomas and paragangliomas in a Brazilian cohort.
Sign Up to like & getrecommendations! Published in 2024 at "European journal of endocrinology"
DOI: 10.1093/ejendo/lvae160
Abstract: OBJECTIVE Germline and somatic drivers are identified in 30% and 40% of pheochromocytomas and paragangliomas (PPGLs), respectively. In this study, we investigated the genetic landscape of PPGLs in a Brazilian cohort. METHODS We studied 182… read more here.
Keywords: cohort; germline; pheochromocytomas paragangliomas; brazilian cohort ... See more keywords
Genetic landscape of auditory dysfunction.
Sign Up to like & getrecommendations! Published in 2018 at "Human molecular genetics"
DOI: 10.1093/hmg/ddy158
Abstract: Over the past 25 years, human and mouse genetics research together has identified several hundred genes essential for mammalian hearing, leading to a greater understanding of the molecular mechanisms underlying auditory function. However, from the… read more here.
Keywords: auditory; genetics; landscape auditory; auditory dysfunction ... See more keywords
River valleys shaped the maternal genetic landscape of Han Chinese.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular biology and evolution"
DOI: 10.1093/molbev/msz072
Abstract: A general south-north genetic divergence has been observed among Han Chinese in previous studies. However, these studies, especially those on mitochondrial DNA (mtDNA), are based either on partial mtDNA sequences or limited samples. Given that… read more here.
Keywords: landscape han; river valleys; genetic landscape; han chinese ... See more keywords
Mapping the genetic landscape of iron metabolism uncovers the SETD2 methyltransferase as a modulator of iron flux
Sign Up to like & getrecommendations! Published in 2025 at "Science Advances"
DOI: 10.1101/2025.02.26.640314
Abstract: Cellular iron levels must be tightly regulated to ensure sufficient iron for essential enzymatic functions whilst avoiding the harmful generation of toxic species. Here, to better understand how iron levels are controlled, we carry out… read more here.
Keywords: flux; landscape iron; iron; mapping genetic ... See more keywords