Medical genetics in the genomic medicine of the 21st century

Article Abstract:

Medical genetics, medical geneticists and genomic medicine are defined and the roles of medical genetics and medical geneticists in the development of genomic medicine are described. It is observed that medical geneticists need to broaden their perspectives and interact closely with primary-care providers and other specialists to enable medical genetics to become an essential part of the genomic medicine of the 21st century.

Terminology, Cytogeneticists

---

A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers

Article Abstract:

Research shows that a human hairless gene mutation is responsible for congenital atrichia, a recessively inherited absence of hair follicles in both males and females. Using a large family of inbred Irish Travellers as subjects, scientists found that the mutation affects the zinc-finger transcription-factor protein which is crucial in regulating hair cycle catagen remodeling.

Ireland, Causes of, Genetic aspects, Birth defects, Baldness, Alopecia

---

Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements

Article Abstract:

A model of the genomic lesions is used to study and characterize the gross deletion breakpoints in patients with the deficiency of IGHM, BTK or Artemis genes. The analysis reveals that the high content of transposable elements (TE) lead to an increase in the gross deletions in the patients.

Usage, Genomics, Human chromosome abnormalities

Similar abstracts:

• Abstracts: Agents that increase the permeability of the outer membrane. The complete general secretory pathway in gram-negative bacteria
• Abstracts: Endosymbiosis: Past and present. Medical genetics: Revenge of the thrift
• Abstracts: Metabolism and genetics of Helicobacter pylori: the genome era. Determination of the core of a minimal bacterial gene set
• Abstracts: Male sex drive and the masculinization of the genome. Cancer genome sequencing: the challenges ahead. The regulatory genome: Eric Davidson at 70
• Abstracts: Bacterial outer membrane vesicles and the host-pathogen interaction. part 2 Critical and distinct roles for key RET tyrosine docking sites in renal development

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.