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Items: 1 to 20 of 89

1.

An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13.

Al-Mutairy EA, Imtiaz FA, Khalid M, Al Qattan S, Saleh S, Mahmoud LM, Al-Saif MM, Al-Haj L, Al-Enazi A, AlJebreen AM, Mohammed SF, Mobeireek AF, Alkattan K, Chisti MA, Luzina IG, Al-Owain M, Weheba I, Abdelsayed AM, Ramzan K, Janssen LJ, Conca W, Alaiya A, Collison KS, Meyer BF, Atamas SP, Khabar KS, Hasday JD, Al-Mohanna F.

Eur Respir J. 2019 Jul 18;54(1). pii: 1802041. doi: 10.1183/13993003.02041-2018. Print 2019 Jul.

2.

Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.

Diaz de Leon A, Cronkhite JT, Katzenstein AL, Godwin JD, Raghu G, Glazer CS, Rosenblatt RL, Girod CE, Garrity ER, Xing C, Garcia CK.

PLoS One. 2010 May 19;5(5):e10680. doi: 10.1371/journal.pone.0010680.

3.

[Pulmonary surfactant protein adenosine triphosphate-binding-cassette-A3 gene composite mutations in infant congenital interstitial lung disease: report of a case and review of literature].

Xie N, Chen DH, Lin YN, Wu SZ, Gu YY, Zeng QS, Zhai YY, Yang LY, Xu JX.

Zhonghua Er Ke Za Zhi. 2016 Oct 2;54(10):761-766. doi: 10.3760/cma.j.issn.0578-1310.2016.10.010. Chinese.

PMID:
27784479
4.

A common MUC5B promoter polymorphism and pulmonary fibrosis.

Seibold MA, Wise AL, Speer MC, Steele MP, Brown KK, Loyd JE, Fingerlin TE, Zhang W, Gudmundsson G, Groshong SD, Evans CM, Garantziotis S, Adler KB, Dickey BF, du Bois RM, Yang IV, Herron A, Kervitsky D, Talbert JL, Markin C, Park J, Crews AL, Slifer SH, Auerbach S, Roy MG, Lin J, Hennessy CE, Schwarz MI, Schwartz DA.

N Engl J Med. 2011 Apr 21;364(16):1503-12. doi: 10.1056/NEJMoa1013660.

5.

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

Voskarides K, Papagregoriou G, Hadjipanagi D, Petrou I, Savva I, Elia A, Athanasiou Y, Pastelli A, Kkolou M, Hadjigavriel M, Stavrou C, Pierides A, Deltas C.

BMC Nephrol. 2018 May 16;19(1):114. doi: 10.1186/s12882-018-0906-5.

6.

Gene expression of mouse S100A3, a cysteine-rich calcium-binding protein, in developing hair follicle.

Kizawa K, Tsuchimoto S, Hashimoto K, Uchiwa H.

J Invest Dermatol. 1998 Nov;111(5):879-86.

7.

Familial interstitial pulmonary fibrosis in two different families in India: A case series.

Pradipkumar D, Gautham A, Gupta R, James P, Thangakunam B, Christopher DJ.

Lung India. 2017 Sep-Oct;34(5):475-479. doi: 10.4103/0970-2113.213824.

8.

Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort.

van Moorsel CH, van Oosterhout MF, Barlo NP, de Jong PA, van der Vis JJ, Ruven HJ, van Es HW, van den Bosch JM, Grutters JC.

Am J Respir Crit Care Med. 2010 Dec 1;182(11):1419-25. doi: 10.1164/rccm.200906-0953OC. Epub 2010 Jul 23.

PMID:
20656946
9.

Pulmonary fibrosis in the era of stratified medicine.

Mathai SK, Newton CA, Schwartz DA, Garcia CK.

Thorax. 2016 Dec;71(12):1154-1160. doi: 10.1136/thoraxjnl-2016-209172. Epub 2016 Oct 31. Review.

10.

Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.

Myhre R, Steinkjer S, Stormyr A, Nilsen GL, Abu Zayyad H, Horany K, Nusier MK, Klungland H.

BMC Neurol. 2008 Dec 16;8:47. doi: 10.1186/1471-2377-8-47.

11.

A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita.

Du H, Guo Y, Ma D, Tang K, Cai D, Luo Y, Xie C.

Medicine (Baltimore). 2018 May;97(19):e0724. doi: 10.1097/MD.0000000000010724.

12.

A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features.

Fernandez BA, Fox G, Bhatia R, Sala E, Noble B, Denic N, Fernandez D, Duguid N, Dohey A, Kamel F, Edwards L, Mahoney K, Stuckless S, Parfrey PS, Woods MO.

Respir Res. 2012 Aug 1;13:64. doi: 10.1186/1465-9921-13-64.

13.

S100-mediated signal transduction in the nervous system and neurological diseases.

Zimmer DB, Chaplin J, Baldwin A, Rast M.

Cell Mol Biol (Noisy-le-grand). 2005 Sep 5;51(2):201-14.

PMID:
16171556
14.

Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.

Chen X, Sheng X, Liu Y, Li Z, Sun X, Jiang C, Qi R, Yuan S, Wang X, Zhou G, Zhen Y, Xie P, Liu Q, Yan B, Zhao C.

J Transl Med. 2018 May 29;16(1):145. doi: 10.1186/s12967-018-1522-7.

15.

Heritable Pulmonary Arterial Hypertension.

Austin ED, Loyd JE, Phillips JA III.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2002 Jul 18 [updated 2015 Jun 11].

16.

Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases.

McElvaney OJ, Huizing M, Gahl WA, O'Donovan P, Horan D, Logan PM, Reeves EP, McElvaney NG.

Thorax. 2018 Nov;73(11):1085-1088. doi: 10.1136/thoraxjnl-2018-211920. Epub 2018 Jun 25.

PMID:
29941477
17.
18.

Familial idiopathic pulmonary fibrosis in a young female.

Sritharan SS, Gajewska ME, Skytte AS, Madsen LB, Bendstrup E.

Respir Med Case Rep. 2018 Mar 13;24:1-4. doi: 10.1016/j.rmcr.2018.03.005. eCollection 2018.

19.

Identification of a novel, functional role for S100A13 in invasive lung cancer cell lines.

Pierce A, Barron N, Linehan R, Ryan E, O'Driscoll L, Daly C, Clynes M.

Eur J Cancer. 2008 Jan;44(1):151-9. Epub 2007 Dec 3.

PMID:
18061437
20.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970

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