Molecular genetics the Finnish disease heritage
L Peltonen, A Jalanko, T Varilo - Human molecular genetics, 1999 - academic.oup.com
Finland, located at the edge of the inhabitable world, is one of the best-studied genetic
isolates. The characteristic features of population isolates—founder effect, genetic drift and …
isolates. The characteristic features of population isolates—founder effect, genetic drift and …
Discovering the anticancer potential of non-oncology drugs by systematic viability profiling
Anticancer uses of non-oncology drugs have occasionally been found, but such discoveries
have been serendipitous. We sought to create a public resource containing the growth …
have been serendipitous. We sought to create a public resource containing the growth …
The Finnish disease heritage III: the individual diseases
R Norio - Human genetics, 2003 - Springer
This article is the third and last in a series entitled The Finnish Disease Heritage I–III. All the
36 rare hereditary diseases belonging to this entity are described for clinical and molecular …
36 rare hereditary diseases belonging to this entity are described for clinical and molecular …
The missing link between genetic association and regulatory function
The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …
widely assumed that such alleles exert small regulatory effects on the expression of cis …
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss
XZ Liu, XM Ouyang, XJ **a, J Zheng… - Human molecular …, 2003 - academic.oup.com
Prestin, a membrane protein that is highly and almost exclusively expressed in the outer hair
cells (OHCs) of the cochlea, is a motor protein which senses membrane potential and drives …
cells (OHCs) of the cochlea, is a motor protein which senses membrane potential and drives …
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and …
A Rossi, A Superti‐Furga - Human mutation, 2001 - Wiley Online Library
Mutations in the DTDST gene can result in a family of skeletal dysplasia conditions which
comprise two lethal disorders, achondrogenesis type 1B (ACG1B) and atelosteogenesis …
comprise two lethal disorders, achondrogenesis type 1B (ACG1B) and atelosteogenesis …
[BOOK][B] Cracking the genome: Inside the race to unlock human DNA
K Davies - 2002 - books.google.com
In 1953, James Watson and Francis Crick unveiled the double helix structure of DNA. The
discovery was a profound moment in the history of science, but solving the structure of the …
discovery was a profound moment in the history of science, but solving the structure of the …
Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and …
GC Jackson, L Mittaz‐Crettol, JA Taylor… - Human …, 2012 - Wiley Online Library
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively
common skeletal dysplasias resulting in short‐limbed dwarfism, joint pain, and stiffness …
common skeletal dysplasias resulting in short‐limbed dwarfism, joint pain, and stiffness …
STAS domain structure and function
Pendrin shares with nearly all SLC26/SulP anion transporters a carboxy-terminal
cytoplasmic segment organized around a Sulfate Transporter and Anti-Sigma factor …
cytoplasmic segment organized around a Sulfate Transporter and Anti-Sigma factor …
Non-oncology drugs are a source of previously unappreciated anti-cancer activity
Anti-cancer uses of non-oncology drugs have been found on occasion, but such discoveries
have been serendipitous and rare. We sought to create a public resource containing the …
have been serendipitous and rare. We sought to create a public resource containing the …