Ciliopathies
DA Braun, F Hildebrandt - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …
Genetics of congenital heart disease: the glass half empty
AC Fahed, BD Gelb, JG Seidman… - Circulation research, 2013 - Am Heart Assoc
Congenital heart disease (CHD) is the most common congenital anomaly in newborn
babies. Cardiac malformations have been produced in multiple experimental animal …
babies. Cardiac malformations have been produced in multiple experimental animal …
[图书][B] Biocapital: The constitution of postgenomic life
KS Rajan - 2006 - books.google.com
Biocapital is a major theoretical contribution to science studies and political economy.
Grounding his analysis in a multi-sited ethnography of genomic research and drug …
Grounding his analysis in a multi-sited ethnography of genomic research and drug …
The human obesity gene map: the 2005 update
T Rankinen, A Zuberi, YC Chagnon, SJ Weisnagel… - …, 2006 - Wiley Online Library
This paper presents the 12th update of the human obesity gene map, which incorporates
published results up to the end of October 2005. Evidence from single‐gene mutation …
published results up to the end of October 2005. Evidence from single‐gene mutation …
Biology and therapy of inherited retinal degenerative disease: insights from mouse models
S Veleri, CH Lazar, B Chang… - Disease models & …, 2015 - journals.biologists.com
Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a
major cause of incurable vision loss. Tremendous progress has been made over the last two …
major cause of incurable vision loss. Tremendous progress has been made over the last two …
The ciliopathies: an emerging class of human genetic disorders
Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell
surfaces to perform diverse biological roles, including whole-cell locomotion; movement of …
surfaces to perform diverse biological roles, including whole-cell locomotion; movement of …
Hirschsprung disease, associated syndromes and genetics: a review
J Amiel, E Sproat-Emison, M Garcia-Barcelo… - Journal of medical …, 2008 - jmg.bmj.com
Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause
of functional intestinal obstruction with an incidence of 1/5000 live births. This …
of functional intestinal obstruction with an incidence of 1/5000 live births. This …
A systematic review of genetic syndromes with obesity
Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and
involves the co‐presentation of other characteristics, such as mental retardation, dysmorphic …
involves the co‐presentation of other characteristics, such as mental retardation, dysmorphic …
Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
SJ Ansley, JL Badano, OE Blacque, J Hill, BE Hoskins… - Nature, 2003 - nature.com
Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized
primarily by retinal dystrophy, obesity, polydactyly, renal malformations and learning …
primarily by retinal dystrophy, obesity, polydactyly, renal malformations and learning …
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
N Katsanis, SJ Ansley, JL Badano, ER Eichers… - Science, 2001 - science.org
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by
multiple clinical features that include pigmentary retinal dystrophy, polydactyly, obesity …
multiple clinical features that include pigmentary retinal dystrophy, polydactyly, obesity …