Results 161 to 170 of about 37,318 (190)

Inborn errors of immunity: an expanding universe of disease and genetic architecture

Nature Reviews Genetics, 2023
Inborn errors of immunity (IEIs) are generally considered to be rare monogenic disorders of the immune system that cause immunodeficiency, autoinflammation, autoimmunity, allergy and/or cancer. Here, we discuss evidence that IEIs need not be rare disorders or exclusively affect the immune system.
Yemsratch T. Akalu, Dusan Bogunovic
openaire   +2 more sources

Integrated genetic databases in the study of neuropsychiatric diseases: Inborn errors of cerebral metabolic pathways?

Progress in Neuro-Psychopharmacology and Biological Psychiatry, 1991
1. Genetic databases are an expanding and readily accessible repository of information on the mapping and sequencing of the human genome, and that of other model organisms. The integration and application of this information to neuropsychiatric disease is illustrated using neuroendocrine and neuropharmacologic data, computerized and other genetic ...
M, Jaworski, E, Edwards
openaire   +2 more sources

Inborn errors of metabolism. Vitamin-responsive genetic disease.

Journal of clinical pathology. Supplement (Royal College of Pathologists), 1984
The several ways in which vitamin administration may bring about a biochemical response in genetic abnormalities have been discussed. Two major interrelated lessons emerge from what we now know about vitamin-responsive genetic disease. First, it is possible to enhance metabolite flow through partially deficient reactions by suitable manipulation of the
openaire   +2 more sources

[Human genetic aspects of inborn ear, nose, and throat diseases].

HNO, 1985
The genetic analysis of malformations enables us to distinguish four groups of different anomalies: 1. Chromosomal disorders (gene and chromosome mutations). 2. Single (monogenic) hereditary anomalies and malformations (gene mutations: point-mutations). 3. Malformations with polygenic multifactorial basis (combination of genetic and exogenous factors).
openaire   +1 more source

Integrative oncology: Addressing the global challenges of cancer prevention and treatment

Ca-A Cancer Journal for Clinicians, 2022
Jun J Mao,, Msce, Lorenzo Cohen, Karen M Mustian   +2 more
exaly  

Refsum's disease (heredopathia atactica polyneuritiformis)

Human Genetics, 1965
R, Richterich, S, Rosin, E, Rossi
openaire   +2 more sources

Obesity and adverse breast cancer risk and outcome: Mechanistic insights and strategies for intervention

Ca-A Cancer Journal for Clinicians, 2017
Cynthia Morata-Tarifa, Joyce M Slingerland   +1 more
exaly  

Multidisciplinary standards of care and recent progress in pancreatic ductal adenocarcinoma

Ca-A Cancer Journal for Clinicians, 2020
Aaron J Grossberg, William L Hwang, Anirban Maitra   +2 more
exaly  

Oral complications of cancer and cancer therapy

Ca-A Cancer Journal for Clinicians, 2012
Joel B Epstein, Rene-Jean Bensadoun, Andrei Barasch   +2 more
exaly  

The financial burden and distress of patients with cancer: Understanding and stepping‐up action on the financial toxicity of cancer treatment

Ca-A Cancer Journal for Clinicians, 2018
Pricivel M Carrera, Hagop M Kantarjian, Victoria S Blinder   +2 more
exaly