Familial pulmonary fibrosis

Steele, 2005, Clinical and pathologic features of familial interstitial pneumonia, Am J Respir Crit Care Med, 172, 1146, 10.1164/rccm.200408-1104OC Reddy, 2012, Pleuroparenchymal fibroelastosis: a spectrum of histopathological and imaging phenotypes, Eur Respir J, 40, 377, 10.1183/09031936.00165111 Marshall, 2000, Adult familial cryptogenic fibrosing alveolitis in the United Kingdom, Thorax, 55, 143, 10.1136/thorax.55.2.143 Hodgson, 2002, Nationwide prevalence of sporadic and familial idiopathic pulmonary fibrosis: evidence of founder effect among multiplex families in Finland, Thorax, 57, 338, 10.1136/thorax.57.4.338 Loyd, 2003, Pulmonary fibrosis in families, Am J Respir Cell Mol Biol, 29, S47 Garcia-Sancho, 2011, Familial pulmonary fibrosis is the strongest risk factor for idiopathic pulmonary fibrosis, Respir Med, 105, 1902, 10.1016/j.rmed.2011.08.022 Scholand, 2013, Use of a genealogical database demonstrates heritability of pulmonary fibrosis, Lung, 191, 475, 10.1007/s00408-013-9484-2 Okamoto, 2013, A familial history of pulmonary fibrosis in patients with chronic hypersensitivity pneumonitis, Respiration, 85, 384, 10.1159/000338123 Rosas, 2007, Early interstitial lung disease in familial pulmonary fibrosis, Am J Respir Crit Care Med, 176, 698, 10.1164/rccm.200702-254OC Leslie, 2012, Familial idiopathic interstitial pneumonia: histopathology and survival in 30 patients, Arch Pathol Lab Med, 136, 1366, 10.5858/arpa.2011-0627-OAI Lee, 2005, Familial idiopathic pulmonary fibrosis: clinical features and outcome, Chest, 127, 2034, 10.1378/chest.127.6.2034 Lee, 2012, High-resolution CT scan findings in familial interstitial pneumonia do not conform to those of idiopathic interstitial pneumonia, Chest, 142, 1577, 10.1378/chest.11-2812 Fernandez, 2012, A newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features, Respir Res, 13, 64, 10.1186/1465-9921-13-64 Lee, 2005, Histopathologic pattern and clinical features of rheumatoid arthritis-associated interstitial lung disease, Chest, 127, 2019, 10.1378/chest.127.6.2019 Ravaglia, 2014, Features and outcome of familial idiopathic pulmonary fibrosis, Sarcoidosis Vasc Diffuse Lung Dis, 31, 28 Diaz de Leon, 2010, Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations, PLoS One, 5, e10680, 10.1371/journal.pone.0010680 Peljto, 2013, Association between the MUC5B promoter polymorphism and survival in patients with idiopathic pulmonary fibrosis, JAMA, 309, 2232, 10.1001/jama.2013.5827 Calado, 2009, Telomere diseases, N Engl J Med, 361, 2353, 10.1056/NEJMra0903373 Armanios, 2012, Telomeres and disease: an overview, Mutat Res, 730, 1, 10.1016/j.mrfmmm.2011.11.005 Mialou, 2013, La dyskératose congenitale : mise au point, Arch Pediatr, 20, 299, 10.1016/j.arcped.2012.12.003 Heiss, 1998, X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions, Nat Genet, 19, 32, 10.1038/ng0598-32 Knight, 1998, Dyskeratosis Congenita (DC) registry: identification of new features of DC, Br J Haematol, 103, 990, 10.1046/j.1365-2141.1998.01103.x Dokal, 2011, Dyskeratosis congenita, Hematology Am Soc Hematol Educ Program, 2011, 480, 10.1182/asheducation-2011.1.480 Armanios, 2007, Telomerase mutations in families with idiopathic pulmonary fibrosis, N Engl J Med, 356, 1317, 10.1056/NEJMoa066157 Tsakiri, 2007, Adult-onset pulmonary fibrosis caused by mutations in telomerase, Proc Natl Acad Sci U S A, 104, 7552, 10.1073/pnas.0701009104 Alder, 2013, Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene, Hum Mutat, 34, 1481, 10.1002/humu.22397 Fukuhara, 2013, Pulmonary fibrosis in dyskeratosis congenita with TINF2 gene mutation, Eur Respir J, 42, 1757, 10.1183/09031936.00149113 Gramatges, 2013, A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal-Hreidarsson syndrome, Blood, 121, 3586, 10.1182/blood-2012-08-447755 El-Chemaly, 2011, Natural history of pulmonary fibrosis in two subjects with the same telomerase mutation, Chest, 139, 1203, 10.1378/chest.10-2048 Cottin, 2013, Rev Mal Respir, 30, 879, 10.1016/j.rmr.2013.09.007 Borie, 2014, Severe hematological complications after lung transplantation in patients with telomerase complex mutations, J Heart Lung Transplant Silhan, 2014, Lung transplantation in telomerase mutation carriers with pulmonary fibrosis, Eur Respir J, 44, 178, 10.1183/09031936.00060014 Giri, 2011, Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: case report and systematic literature review, BMC Blood Disord, 11, 3, 10.1186/1471-2326-11-3 Langston, 1996, Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita, Br J Haematol, 92, 758, 10.1046/j.1365-2141.1996.424984.x Diaz de Leon, 2011, Subclinical lung disease, macrocytosis, and premature graying in kindreds with telomerase (TERT) mutations, Chest, 140, 753, 10.1378/chest.10-2865 Ball, 1998, Progressive telomere shortening in aplastic anemia, Blood, 91, 3582, 10.1182/blood.V91.10.3582 Yamaguchi, 2003, Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome, Blood, 102, 916, 10.1182/blood-2003-01-0335 Yamaguchi, 2005, Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia, N Engl J Med, 352, 1413, 10.1056/NEJMoa042980 Parry, 2011, Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase, Blood, 117, 5607, 10.1182/blood-2010-11-322149 Calado, 2009, A spectrum of severe familial liver disorders associate with telomerase mutations, PLoS One, 4, e7926, 10.1371/journal.pone.0007926 Hartmann, 2011, Telomerase gene mutations are associated with cirrhosis formation, Hepatology, 53, 1608, 10.1002/hep.24217 Cronkhite, 2008, Telomere shortening in familial and sporadic pulmonary fibrosis, Am J Respir Crit Care Med, 178, 729, 10.1164/rccm.200804-550OC Haque, 2013, Shortened telomere length in patients with systemic lupus erythematosus, Arthritis Rheum, 65, 1319, 10.1002/art.37895 Hou, 2013, Lifetime pesticide use and telomere shortening among male pesticide applicators in the agricultural health study, Environ Health Perspect, 121, 919, 10.1289/ehp.1206432 Alder, 2011, Telomere length is a determinant of emphysema susceptibility, Am J Respir Crit Care Med, 184, 904, 10.1164/rccm.201103-0520OC Touzot, 2012, Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita, J Allergy Clin Immunol, 129, 473, 10.1016/j.jaci.2011.09.043 Alder, 2011, Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis, PLoS Genet, 7, e1001352, 10.1371/journal.pgen.1001352 Gansner, 2012, Pulmonary fibrosis, bone marrow failure, and telomerase mutation, N Engl J Med, 366, 1551, 10.1056/NEJMc1200999 Whitsett, 2010, Alveolar surfactant homeostasis and the pathogenesis of pulmonary disease, Annu Rev Med, 61, 105, 10.1146/annurev.med.60.041807.123500 Flamein, 2012, Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children, Hum Mol Genet, 21, 765, 10.1093/hmg/ddr508 Borie, 2011, Pulmonary alveolar proteinosis, Eur Respir Rev, 20, 98, 10.1183/09059180.00001311 Nogee, 2001, A mutation in the surfactant protein C gene associated with familial interstitial lung disease, N Engl J Med, 344, 573, 10.1056/NEJM200102223440805 Thomas, 2002, Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred, Am J Respir Crit Care Med, 165, 1322, 10.1164/rccm.200112-123OC Lawson, 2008, Endoplasmic reticulum stress in alveolar epithelial cells is prominent in IPF: association with altered surfactant protein processing and herpesvirus infection, Am J Physiol Lung Cell Mol Physiol, 294, L1119, 10.1152/ajplung.00382.2007 Mulugeta, 2005, A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation, Am J Respir Cell Mol Biol, 32, 521, 10.1165/rcmb.2005-0009OC Brasch, 2004, Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene, Eur Respir J, 24, 30, 10.1183/09031936.04.00000104 Lawson, 2005, Increased and prolonged pulmonary fibrosis in surfactant protein C-deficient mice following intratracheal bleomycin, Am J Pathol, 167, 1267, 10.1016/S0002-9440(10)61214-X Nathan, 2012, A national internet-linked based database for pediatric interstitial lung diseases: the French network, Orphanet J Rare Dis, 7, 40, 10.1186/1750-1172-7-40 Crossno, 2010, Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC, Chest, 137, 969, 10.1378/chest.09-0790 Lawson, 2004, Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF, Thorax, 59, 977, 10.1136/thx.2004.026336 Markart, 2007, Surfactant protein C mutations in sporadic forms of idiopathic interstitial pneumonias, Eur Respir J, 29, 134, 10.1183/09031936.00034406 van Moorsel, 2010, Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort, Am J Respir Crit Care Med, 182, 1419, 10.1164/rccm.200906-0953OC Guillot, 2009, New surfactant protein C gene mutations associated with diffuse lung disease, J Med Genet, 46, 490, 10.1136/jmg.2009.066829 Bridges, 2006, Adaptation and increased susceptibility to infection associated with constitutive expression of misfolded SP-C, J Cell Biol, 172, 395, 10.1083/jcb.200508016 Bullard, 2007, Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation, Pediatr Res, 62, 176, 10.1203/PDR.0b013e3180a72588 Mechri, 2010, Surfactant protein C gene (SFTPC) mutation-associated lung disease: high-resolution computed tomography (HRCT) findings and its relation to histological analysis, Pediatr Pulmonol, 45, 1021, 10.1002/ppul.21289 Ono, 2011, Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred, Eur Respir J, 38, 861, 10.1183/09031936.00143610 Cottin, 2011, Combined pulmonary fibrosis and emphysema syndrome associated with familial SFTPC mutation, Thorax, 66, 918, 10.1136/thx.2010.151407 Thouvenin, 2010, Characteristics of disorders associated with genetic mutations of surfactant protein C, Arch Dis Child, 95, 449, 10.1136/adc.2009.171553 Yusen, 1999, Normal lung function in subjects heterozygous for surfactant protein-B deficiency, Am J Respir Crit Care Med, 159, 411, 10.1164/ajrccm.159.2.9806033 Baekvad-Hansen, 2010, Surfactant protein-B 121ins2 heterozygosity, reduced pulmonary function, and chronic obstructive pulmonary disease in smokers, Am J Respir Crit Care Med, 181, 17, 10.1164/rccm.200906-0963OC Wang, 2009, Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer, Am J Hum Genet, 84, 52, 10.1016/j.ajhg.2008.11.010 Maitra, 2012, Mutant surfactant A2 proteins associated with familial pulmonary fibrosis and lung cancer induce TGF-beta1 secretion, Proc Natl Acad Sci U S A, 109, 21064, 10.1073/pnas.1217069110 Thouvenin, 2013, Diffuse parenchymal lung disease caused by surfactant deficiency: dramatic improvement by azithromycin, BMJ Case Rep, 2013 Epaud, 2014, Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations, Eur Respir J, 43, 638, 10.1183/09031936.00145213 Campo, 2014, A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant, Respir Res, 15, 43, 10.1186/1465-9921-15-43 Huizing, 2008, Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics, Annu Rev Genomics Hum Genet, 9, 359, 10.1146/annurev.genom.9.081307.164303 Santiago Borrero, 2006, Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico, J Invest Dermatol, 126, 85, 10.1038/sj.jid.5700034 Gahl, 1998, Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome), N Engl J Med, 338, 1258, 10.1056/NEJM199804303381803 Pierson, 2006, Pulmonary fibrosis in Hermansky-Pudlak syndrome. A case report and review, Respiration, 73, 382, 10.1159/000091609 Gahl, 2002, Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome, Mol Genet Metab, 76, 234, 10.1016/S1096-7192(02)00044-6 O’Brien, 2011, Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis, Mol Genet Metab, 103, 128, 10.1016/j.ymgme.2011.02.003 Riccardi, 1981, Von Recklinghausen neurofibromatosis, N Engl J Med, 305, 1617, 10.1056/NEJM198112313052704 Zamora, 2007, Neurofibromatosis-associated lung disease: a case series and literature review, Eur Respir J, 29, 210, 10.1183/09031936.06.00044006 Ryu, 2005, Lack of evidence for an association between neurofibromatosis and pulmonary fibrosis, Chest, 128, 2381, 10.1378/chest.128.4.2381 Hamvas, 2013, Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1, Chest, 144, 794, 10.1378/chest.12-2502 Mercier, 2013, Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis, Am J Hum Genet, 93, 1100, 10.1016/j.ajhg.2013.10.013 Seibold, 2011, A common MUC5B promoter polymorphism and pulmonary fibrosis, N Engl J Med, 364, 1503, 10.1056/NEJMoa1013660 Borie, 2013, The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population, PLoS One, 8, e70621, 10.1371/journal.pone.0070621 Horimasu, 2013, MUC5B promoter polymorphism is significantly associated with idiopathic interstitial pneumonia in German but not in Japanese patients, Eur Respir J, 42, 475s Plantier, 2011, Ectopic respiratory epithelial cell differentiation in bronchiolised distal airspaces in idiopathic pulmonary fibrosis, Thorax, 66, 651, 10.1136/thx.2010.151555 Roy, 2014, MUC5B is required for airway defence, Nature, 505, 412, 10.1038/nature12807 Korthagen, 2012, IL1RN genetic variations and risk of IPF: a meta-analysis and mRNA expression study, Immunogenetics, 64, 371, 10.1007/s00251-012-0604-6 Bournazos, 2010, Association of FcgammaRIIa R131H polymorphism with idiopathic pulmonary fibrosis severity and progression, BMC Pulm Med, 10, 51, 10.1186/1471-2466-10-51 Korthagen, 2012, Association between variations in cell cycle genes and idiopathic pulmonary fibrosis, PLoS One, 7, e30442, 10.1371/journal.pone.0030442 Fingerlin, 2013, Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis, Nat Genet, 45, 613, 10.1038/ng.2609 Codd, 2013, Identification of seven loci affecting mean telomere length and their association with disease, Nat Genet, 45, 422, 10.1038/ng.2528 Oak, 2011, A microRNA processing defect in rapidly progressing idiopathic pulmonary fibrosis, PLoS One, 6, e21253, 10.1371/journal.pone.0021253 Rabinovich, 2012, Global methylation patterns in idiopathic pulmonary fibrosis, PLoS One, 7, e33770, 10.1371/journal.pone.0033770 Dakhlallah, 2013, Epigenetic regulation of miR-17∼92 contributes to the pathogenesis of pulmonary fibrosis, Am J Respir Crit Care Med, 187, 397, 10.1164/rccm.201205-0888OC Alder, 2008, Short telomeres are a risk factor for idiopathic pulmonary fibrosis, Proc Natl Acad Sci U S A, 105, 13051, 10.1073/pnas.0804280105 Cottin, 2013, [French recommendations for idiopathic pulmonary fibrosis: oriented toward practice], Rev Mal Respir, 30, 814, 10.1016/j.rmr.2013.10.010 Manolio, 2009, Finding the missing heritability of complex diseases, Nature, 461, 747, 10.1038/nature08494 McCarthy, 2008, Genome-wide association studies for complex traits: consensus, uncertainty and challenges, Nat Rev Genet, 9, 356, 10.1038/nrg2344 Hodgson, 2006, ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis, Am J Hum Genet, 79, 149, 10.1086/504639 Dell’Angelica, 1999, Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor, Mol Cell, 3, 11, 10.1016/S1097-2765(00)80170-7 Dessinioti, 2009, A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes, Exp Dermatol, 18, 741, 10.1111/j.1600-0625.2009.00896.x