Results 41 to 50 of about 591,252 (334)
Clinical genetics in cardiology [PDF]
Heart, 2006 The recent and rapid development of molecular genetics in cardiovascular diseases has created a new understanding of their pathogenesis and natural history, and also new possibilities for the diagnosis of these genetic disorders through genetic testing.
openaire +3 more sources
FEBS Letters, EarlyView.The NlpC_P60 superfamily of peptidases is recognised by its key role in bacterial cell wall homeostasis. Recently, studies have also described the involvement of NlpC_P60‐like enzymes in bacterial competitive mechanisms and pathogenesis across several lineages.
Catharina dos Santos Silva +1 more
wiley +1 more source
The role of genetics in modern medicine
Байкальский медицинский журнал, 2022 The lecture examines the role of modern genetics and its significance for medicine. The goals of genetics and its structure are determined. It is shown that modern medical genetics is divided into general genetics, clinical genetics and laboratory ...
Elena Anatolyevna Tkachuk +1 more
doaj +1 more source
Mapping the Genetic-Imaging-Clinical Pathway with Applications to Alzheimer's Disease [PDF]
arXiv, 2020 Alzheimer's disease is a progressive form of dementia that results in problems with memory, thinking, and behavior. It often starts with abnormal aggregation and deposition of beta amyloid and tau, followed by neuronal damage such as atrophy of the hippocampi, leading to Alzheimer's Disease (AD).
arxiv
Making tau amyloid models in vitro: a crucial and underestimated challenge
FEBS Letters, EarlyView.This review highlights the challenges of producing in vitro amyloid assemblies of the tau protein. We review how accurately the existing protocols mimic tau deposits found in the brain of patients affected with tauopathies. We discuss the important properties that should be considered when forming amyloids and the benchmarks that should be used to ...
Julien Broc, Clara Piersson, Yann Fichou
wiley +1 more source
Unraveling Mycobacterium tuberculosis acid resistance and pH homeostasis mechanisms
FEBS Letters, EarlyView.Mycobacterium tuberculosis exhibits a remarkable resilience to acid stress. In this Review, we discuss some of the molecular mechanisms and metabolic pathways used by the tubercle bacilli to adapt and resist host‐mediated acid stress. Mycobacterium tuberculosis (Mtb) is a successful pathogen that has developed a variety of strategies to survive and ...
Janïs Laudouze +3 more
wiley +1 more source
The Clinical Genetics of Prostate Cancer [PDF]
Hereditary Cancer in Clinical Practice, 2004 Prostate cancer is the most common cancer in men and the second highest cause of cancer-related mortality in the U.K. A genetic component in predisposition to prostate cancer has been recognized for decades. One of the strongest epidemiological risk factors for prostate cancer is a positive family history.
Stephen M. Edwards +2 more
openaire +4 more sources
FEBS Letters, EarlyView.α2 → 8 polysialic acid elicits poor immunogenicity. Small‐angle scattering shows a supramolecular structure with parallel‐chain binding, although in different forms at μm and mm calcium. The major histocompatibility complex requires molecular weights around 2000 Da to produce antibodies, and 2000 Da polysialic oligomers will bind in these structures ...
Kenneth A. Rubinson
wiley +1 more source
Endocrine ConnectionsObjective: Androgen insensitivity syndrome (AIS) due to androgen receptor (AR) mutations creates a spectrum of clinical presentations based on residual AR function with the mildest impairment creating mild AIS (MAIS) whose undefined molecular mechanism ...
Ravind Pandher +8 more
doaj +1 more source
Trans-ethnic variation in germline variants of patients with renal cell carcinoma
Cell Reports, 2021 Summary: Prior studies of the renal cell carcinoma (RCC) germline landscape investigated predominantly patients of European ancestry. We examine the frequency of germline pathogenic and likely pathogenic (P/LP) variants in 1,829 patients with RCC from ...
Sarah Abou Alaiwi +18 more
doaj