The lamin B receptor (LBR) is an inner nuclear membrane protein with a structural function interacting with chromatin and lamins, and an enzymatic function as a sterol reductase. Heterozygous LBR mutations cause nuclear hyposegmentation in neutrophils (Pelger anomaly), while homozygous mutations cause prenatal death with skeletal defects and abnormal sterol metabolism (Greenberg dysplasia). It has remained unclear whether the lethality in Greenberg dysplasia is due to cholesterol defects or altered nuclear morphology.To answer this question we characterized two LBR missense mutations and showed that they cause Greenberg dysplasia. Both mutations affect residues that are evolutionary conserved among sterol reductases. In contrast to wildtype...
Greenberg skeletal dysplasia is an autosomal recessive, perinatal lethal disorder associated with bi...
Hydrops-ectopic calcification-“moth-eaten” (HEM) or Greenberg skeletal dysplasia is an autosomal rec...
The principal human blood granulocyte (neutrophil) possesses a lobulated and deformable nucleus, imp...
The lamin B receptor (LBR) is an inner nuclear membrane protein with a structural function interacti...
The lamin B receptor (LBR) is an inner nuclear membrane protein with a structural function interacti...
Pelger-Huet anomaly (PHA; OMIM *169400) is an autosomal dominant disorder characterized by abnormal ...
Pelger-Huet anomaly (PHA; OMIM *169400) is an autosomal dominant disorder characterized by abnormal ...
Neutrophils are blood phagocytes that contain lobulated nuclei, development of which depend on the e...
Mutations in the gene encoding Lamin B receptor (LBR), a nuclear-membrane protein with sterol reduct...
Lamin B receptor (LBR) is an integral protein of the inner nuclear membrane, containing a hydrophili...
LBR (Lamin B Receptor) encodes a bifunctional protein important for cholesterol biosynthesis and het...
The Lamin B receptor (LBR) gene has been described to encode a bifunctional protein. Mutations in th...
Mutations of the lamin B receptor (LBR) have been shown to cause HEM dysplasia in humans and ichthyo...
Hydrops-ectopic calcification-"moth-eaten" ( HEM) or Greenberg skeletal dysplasia is an autosomal re...
Hydrops-ectopic calcification-"moth-eaten" (HEM) or Greenberg skeletal dysplasia is an autosomal rec...
Greenberg skeletal dysplasia is an autosomal recessive, perinatal lethal disorder associated with bi...
Hydrops-ectopic calcification-“moth-eaten” (HEM) or Greenberg skeletal dysplasia is an autosomal rec...
The principal human blood granulocyte (neutrophil) possesses a lobulated and deformable nucleus, imp...
The lamin B receptor (LBR) is an inner nuclear membrane protein with a structural function interacti...
The lamin B receptor (LBR) is an inner nuclear membrane protein with a structural function interacti...
Pelger-Huet anomaly (PHA; OMIM *169400) is an autosomal dominant disorder characterized by abnormal ...
Pelger-Huet anomaly (PHA; OMIM *169400) is an autosomal dominant disorder characterized by abnormal ...
Neutrophils are blood phagocytes that contain lobulated nuclei, development of which depend on the e...
Mutations in the gene encoding Lamin B receptor (LBR), a nuclear-membrane protein with sterol reduct...
Lamin B receptor (LBR) is an integral protein of the inner nuclear membrane, containing a hydrophili...
LBR (Lamin B Receptor) encodes a bifunctional protein important for cholesterol biosynthesis and het...
The Lamin B receptor (LBR) gene has been described to encode a bifunctional protein. Mutations in th...
Mutations of the lamin B receptor (LBR) have been shown to cause HEM dysplasia in humans and ichthyo...
Hydrops-ectopic calcification-"moth-eaten" ( HEM) or Greenberg skeletal dysplasia is an autosomal re...
Hydrops-ectopic calcification-"moth-eaten" (HEM) or Greenberg skeletal dysplasia is an autosomal rec...
Greenberg skeletal dysplasia is an autosomal recessive, perinatal lethal disorder associated with bi...
Hydrops-ectopic calcification-“moth-eaten” (HEM) or Greenberg skeletal dysplasia is an autosomal rec...
The principal human blood granulocyte (neutrophil) possesses a lobulated and deformable nucleus, imp...