Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons

Neuropathologic Characterization ofINF2-Related Charcot-Marie-Tooth Disease: Evidence for a Schwann Cell Actinopathy

(2014) Stéphane Mathis et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

A novelINF2mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis

(2014) Hyung J. Park et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

ER structure and function

(2013) Shuliang Chen et al.   CURRENT OPINION IN CELL BIOLOGY

Cdc42 regulates schwann cell radial sorting and myelin sheath folding through NF2/merlin-dependent and independent signaling

(2013) Li Guo et al.   GLIA

INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis

(2013) Kentaro Toyota et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy

(2013) I. Mademan et al.   NEUROLOGY

Myelin is dependent on the Charcot–Marie–Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells

(2012) Michael Horn et al.   BRAIN

Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis

(2012) Moumita Barua et al.   KIDNEY INTERNATIONAL

Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy

(2012) Patricia Q. Rodriguez et al.   PEDIATRIC NEPHROLOGY

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis

(2011) Rasheed A. Gbadegesin et al.   KIDNEY INTERNATIONAL

Splice variant–specific cellular function of the formin INF2 in maintenance of Golgi architecture

(2011) Vinay Ramabhadran et al.   MOLECULAR BIOLOGY OF THE CELL

INF2Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy

(2011) Olivia Boyer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Formin INF2 regulates MAL-mediated transport of Lck to the plasma membrane of human T lymphocytes

(2010) L. Andres-Delgado et al.   BLOOD

The Formin INF2 Regulates Basolateral-to-Apical Transcytosis and Lumen Formation in Association with Cdc42 and MAL2

(2010) Ricardo Madrid et al.   DEVELOPMENTAL CELL

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Displacement of Formins from Growing Barbed Ends by Bud14 Is Critical for Actin Cable Architecture and Function

(2009) Melissa Chesarone et al.   DEVELOPMENTAL CELL

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols