Dru F. Leistritz

发表

The spectrum of WRN mutations in Werner syndrome patients

Markus Schuelke, Thomas Dorn, Johannes Ring, 2006, Human mutation.

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.

P. Byers, D. Russell, B. Burton, 2011, Human molecular genetics.

The radiosensitizing agent 7-hydroxystaurosporine (UCN-01) inhibits the DNA damage checkpoint kinase hChk1.

J. Sarkaria, R. Abraham, L. Karnitz, 2000, Cancer research.

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.

Emily H Turner, B. Fernandez, Joshua D. Smith, 2013, American journal of human genetics.

Genomic data in the All of Us Research Program

Matthew S. Lebo, Melissa A. Basford, Karynne E. Patterson, 2024, Nature.

A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features

D. Lessel, F. Hisama, C. Kubisch, 2010, Molecular Syndromology.

Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)

P. Byers, K. Rice, U. Schwarze, 2014, Genetics in Medicine.

Coronary artery disease in a Werner syndrome‐like form of progeria characterized by low levels of progerin, a splice variant of lamin A

K. McBride, D. Lessel, F. Hisama, 2011, American journal of medical genetics. Part A.

Collagen expression in fibroblasts with a novel LMNA mutation.

G. Martin, J. Oshima, D. Leistritz, 2007, Biochemical and biophysical research communications.

The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis

V. Bohr, J. Oshima, W. Cheng, 2008, Human Genetics.