A potential tumor suppressor gene, STK11, encoding a serine threonine kinase, has recently
been identified on chromosome 19p13. Germ-line mutations of this gene have been found …

Various next generation sequencing (NGS) based strategies have been successfully used
in the recent past for tracing origins and understanding the evolution of infectious agents, …

Congenital anomalies are significant causes of mortality and morbidity in infancy and childhood.
Embryogenesis requires specific signaling pathways to regulate cell proliferation and …

Phosphatase and tensin homolog (PTEN) gene mutations are associated with a spectrum of
clinical disorders characterized by skin lesions, macrocephaly, hamartomatous overgrowth …

Mutations in the LKB1 tumour suppressor threonine kinase cause the inherited Peutz-Jeghers
cancer syndrome and are also observed in some sporadic cancers. Recent work indicates …

BACKGROUND: Germline mutations in the STK11/LKB1 gene cause Peutz–Jeghers
syndrome, an autosomal-dominantly inherited condition characterized by mucocutaneous …

Background and aims: Germline mutations in the LKB1 gene are known to cause Peutz-Jeghers
syndrome, which is an autosomal dominant disorder characterised by hamartomatous …

Background The difficulty in establishing a timely correct diagnosis is a relevant matter of
concern for several rare diseases. Many rare-disease-affected patients suffer from …

Primary coenzyme Q10 (CoQ 10 ) deficiencies are rare, clinically heterogeneous disorders
caused by mutations in several genes encoding proteins involved in CoQ 10 biosynthesis. …

So far, somatic mutations of the PTEN gene have been found in several different neoplasms
but not in colorectal tumours. As exons 7 and 8 of the PTEN coding sequence contain an (A) …