PAS domains: internal sensors of oxygen, redox potential, and light
SUMMARY PAS domains are newly recognized signaling domains that are widely
distributed in proteins from members of the Archaea and Bacteria and from fungi, plants …
distributed in proteins from members of the Archaea and Bacteria and from fungi, plants …
The mammalian basic helix–loop–helix/PAS family of transcriptional regulators
RJ Kewley, ML Whitelaw, A Chapman-Smith - The international journal of …, 2004 - Elsevier
Basic helix–loop–helix (bHLH)/PAS proteins are critical regulators of gene expression
networks underlying many essential physiological and developmental processes. These …
networks underlying many essential physiological and developmental processes. These …
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
E Roessler, E Belloni, K Gaudenz, P Jay, P Berta… - Nature …, 1996 - nature.com
Holoprosencephaly (HPE) is a common developmental defect of the forebrain and
frequently the midface in humans, with both genetic and environmental causes. HPE has a …
frequently the midface in humans, with both genetic and environmental causes. HPE has a …
Holoprosencephaly
C Dubourg, C Bendavid, L Pasquier, C Henry… - Orphanet journal of rare …, 2007 - Springer
Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete
cleavage of the prosencephalon, occurring between the 18th and the 28th day of gestation …
cleavage of the prosencephalon, occurring between the 18th and the 28th day of gestation …
Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22. 3
A Paoloni-Giacobino, H Chen, MC Peitsch, C Rossier… - Genomics, 1997 - Elsevier
To contribute to the development of the transcription map of human chromosome 21 (HC21),
we have used exon trapping from pools of HC21-specific cosmids. Using selected trapped …
we have used exon trapping from pools of HC21-specific cosmids. Using selected trapped …
Control of cell lineage-specific development and transcription by bHLH–PAS proteins
ST Crews - Genes & development, 1998 - genesdev.cshlp.org
The basic–helix–loop–helix-PAS (bHLH–PAS) proteins comprise a prominent class of
transcriptional regulators that control a variety of developmental and physiological events …
transcriptional regulators that control a variety of developmental and physiological events …
Molecular cloning of a novel putative Ca2+ channel protein (TRPC7) highly expressed in brain
K Nagamine, J Kudoh, S Minoshima, K Kawasaki… - Genomics, 1998 - Elsevier
We have isolated cDNA clones for a novel human protein, TRPC7 (transient receptor
potential-related channels), which consists of 1503 amino acid residues from the fetal brain …
potential-related channels), which consists of 1503 amino acid residues from the fetal brain …
Holoprosencephaly in RSH/Smith‐Lemli‐Opitz syndrome: Does abnormal cholesterol metabolism affect the function of sonic hedgehog?
RI Kelley, E Roessler, RCM Hennekam… - American journal of …, 1996 - Wiley Online Library
Abstract The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive
malformation syndrome associated with increased levels of 7-dehydro-cholesterol (7-DHC) …
malformation syndrome associated with increased levels of 7-dehydro-cholesterol (7-DHC) …
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly
E Roessler, E Belloni, K Gaudenz… - Human Molecular …, 1997 - academic.oup.com
Holoprosencephaly (HPE) is the most common brain anomaly in humans, involving
abnormal formation and septation of the developing central nervous system. Among the …
abnormal formation and septation of the developing central nervous system. Among the …
TRPM2 Ca2+ permeable cation channels: from gene to biological function
AL Perraud, C Schmitz, AM Scharenberg - Cell calcium, 2003 - Elsevier
TRPM2 is a recently identified TRPM family cation channel which is unique among known
ion channels in that it contains a C-terminal domain which is homologous to the NUDT9 …
ion channels in that it contains a C-terminal domain which is homologous to the NUDT9 …