Congenital ichthyoses are life-threatening conditions in humans. We describe here the identification and molecular characterization of a novel recessive mutation in mice that results in newborn lethality with severe congenital lamellar ichthyosis. Mutant newborns have a taut, shiny, non-expandable epidermis that resembles cornified manifestations of autosomal-recessive congenital ichthyosis in humans. The skin is stretched so tightly that the newborn mice are immobilized. The genetic defect was mapped to a region near the proximal end of chromosome 2 by SNP analysis, suggesting Fatp4/Slc27a4 as a candidate gene. FATP4 mutations in humans cause ichthyosis prematurity syndrome (IPS), and mutations of Fatp4 in mice have previously been found t...
The harlequin ichthyosis (ichq) mouse mutation arose spontaneously in 1989 in a colony of BALB/cJ mi...
In multicellular organisms, the surface barrier is essential for maintaining the internal environmen...
Fatty acid transport protein 4 (FATP4) is an acyl-CoA synthetase that is required for normal permeab...
Congenital ichthyoses are life-threatening conditions in humans. We describe here the identification...
Ichthyosis prematurity syndrome (IPS) is an autosomal-recessive disorder characterized by premature ...
Fatty acid transport protein (FATP) 4 is one of a family of six FATPs that facilitate long- and very...
Fatty acid transport protein (FATP) 4 is one of a family of six FATPs that facilitate long- and very...
So far, little is known about the physiological role of fatty acid transport protein 4 (Fatp4, Slc27...
(Article begins on next page) The Harvard community has made this article openly available. Please s...
AbstractFatty acid transport protein (FATP) 4 is one of a family of six FATPs that facilitate long- ...
AbstractFatty acid transport protein (FATP) 4 is one of a family of six FATPs that facilitate long- ...
In this article, we describe a novel autosomal recessive ichthyosis with hypotrichosis syndrome, cha...
Fatty acid transport protein (FATP) 4 is one of a family of six FATPs that facilitate long- and very...
In this article, we describe a novel autosomal recessive ichthyosis with hypotrichosis syndrome, cha...
With the goal of increasing the number of genetic entry points for studying physiologic processes an...
The harlequin ichthyosis (ichq) mouse mutation arose spontaneously in 1989 in a colony of BALB/cJ mi...
In multicellular organisms, the surface barrier is essential for maintaining the internal environmen...
Fatty acid transport protein 4 (FATP4) is an acyl-CoA synthetase that is required for normal permeab...
Congenital ichthyoses are life-threatening conditions in humans. We describe here the identification...
Ichthyosis prematurity syndrome (IPS) is an autosomal-recessive disorder characterized by premature ...
Fatty acid transport protein (FATP) 4 is one of a family of six FATPs that facilitate long- and very...
Fatty acid transport protein (FATP) 4 is one of a family of six FATPs that facilitate long- and very...
So far, little is known about the physiological role of fatty acid transport protein 4 (Fatp4, Slc27...
(Article begins on next page) The Harvard community has made this article openly available. Please s...
AbstractFatty acid transport protein (FATP) 4 is one of a family of six FATPs that facilitate long- ...
AbstractFatty acid transport protein (FATP) 4 is one of a family of six FATPs that facilitate long- ...
In this article, we describe a novel autosomal recessive ichthyosis with hypotrichosis syndrome, cha...
Fatty acid transport protein (FATP) 4 is one of a family of six FATPs that facilitate long- and very...
In this article, we describe a novel autosomal recessive ichthyosis with hypotrichosis syndrome, cha...
With the goal of increasing the number of genetic entry points for studying physiologic processes an...
The harlequin ichthyosis (ichq) mouse mutation arose spontaneously in 1989 in a colony of BALB/cJ mi...
In multicellular organisms, the surface barrier is essential for maintaining the internal environmen...
Fatty acid transport protein 4 (FATP4) is an acyl-CoA synthetase that is required for normal permeab...