Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

Natural History and Clinical Manifestations of Hyponatremia and Hyperchlorhidrosis due to Carbonic Anhydrase XII Deficiency

(2014) Yael Feinstein et al.   Hormone Research in Paediatrics

Integrin α6β4 Identifies Human Distal Lung Epithelial Progenitor Cells with Potential as a Cell-Based Therapy for Cystic Fibrosis Lung Disease

(2013) Xiaopeng Li et al.   PLoS One

CFTR is required for maximal transepithelial liquid transport in pig alveolar epithelia

(2012) Xiaopeng Li et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

A probabilistic disease-gene finder for personal genomes

(2011) M. Yandell et al.   GENOME RESEARCH

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Elevated sweat chloride concentration in children without cystic fibrosis who are receiving topiramate therapy

(2011) Lokesh Guglani et al.   PEDIATRIC PULMONOLOGY

Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII

(2010) Maya Feldshtein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Perspectives on carbonic anhydrase

(2010) K.M. Gilmour   COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY A-MOLECULAR & INTEGRATIVE PHYSIOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12

(2010) Emad Muhammad et al.   HUMAN GENETICS

Bicarbonate homeostasis in excitable tissues: role of AE3 Cl−/HCO3− exchanger and carbonic anhydrase XIV interaction

(2009) Joseph R. Casey et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Effect of topiramate on acid-base balance: extent, mechanism and effects

(2009) Nasir Mirza et al.   BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the α subunit of the epithelial sodium channel

(2008) Felix G. Riepe et al.   CLINICAL ENDOCRINOLOGY

Cystic fibrosis: impaired bicarbonate secretion and mucoviscidosis

(2008) Paul M Quinton   LANCET

Therapeutic applications of glycosidic carbonic anhydrase inhibitors

(2008) Jean-Yves Winum et al.   MEDICINAL RESEARCH REVIEWS

Carbonic anhydrases: novel therapeutic applications for inhibitors and activators

(2008) Claudiu T. Supuran   NATURE REVIEWS DRUG DISCOVERY

Identification of an alternatively spliced isoform of carbonic anhydrase XII in diffusely infiltrating astrocytic gliomas

(2008) Joonas Haapasalo et al.   NEURO-ONCOLOGY

Feasibility of nasal epithelial brushing for the study of airway epithelial functions in CF infants

(2007) Katharina Mosler et al.   Journal of Cystic Fibrosis