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Items: 1 to 50 of 105

1.

Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand.

Luther J, Yorgan TA, Rolvien T, Ulsamer L, Koehne T, Liao N, Keller D, Vollersen N, Teufel S, Neven M, Peters S, Schweizer M, Trumpp A, Rosigkeit S, Bockamp E, Mundlos S, Kornak U, Oheim R, Amling M, Schinke T, David JP.

Sci Transl Med. 2018 Nov 7;10(466). pii: eaau7137. doi: 10.1126/scitranslmed.aau7137.

PMID:
30404864
2.

Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.

Fortugno P, Angelucci F, Cestra G, Camerota L, Ferraro AS, Cordisco S, Uccioli L, Castiglia D, De Angelis B, Kurth I, Kornak U, Brancati F.

Hum Mutat. 2018 Oct 29. doi: 10.1002/humu.23678. [Epub ahead of print]

PMID:
30371979
3.

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Baena N, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins Ii TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0035-3. [Epub ahead of print]

PMID:
30201961
4.

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

Castori M, Ott CE, Bisceglia L, Leone MP, Mazza T, Castellana S, Tomassi J, Lanciotti S, Mundlos S, Hennekam RC, Kornak U, Brancati F.

Am J Med Genet A. 2018 Sep;176(9):2028-2033. doi: 10.1002/ajmg.a.40379. Epub 2018 Sep 8.

PMID:
30194892
5.

A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee.

Rolvien T, Kornak U, Schinke T, Amling M, Oheim R.

Osteoporos Int. 2018 Aug 27. doi: 10.1007/s00198-018-4667-6. [Epub ahead of print]

PMID:
30151622
6.

Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis.

Rolvien T, Stürznickel J, Schmidt FN, Butscheidt S, Schmidt T, Busse B, Mundlos S, Schinke T, Kornak U, Amling M, Oheim R.

Calcif Tissue Int. 2018 Nov;103(5):512-521. doi: 10.1007/s00223-018-0447-8. Epub 2018 Jun 26.

PMID:
29946973
7.

Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation.

Geissler S, Textor M, Stumpp S, Seitz S, Lekaj A, Brunk S, Klaassen S, Schinke T, Klein C, Mundlos S, Kornak U, Kühnisch J.

PLoS One. 2018 Jun 7;13(6):e0198510. doi: 10.1371/journal.pone.0198510. eCollection 2018.

8.

[Osteoimmunology-IMMUNOBONE : Regulation of bone by inflammation].

Rauner M, Buttgereit F, Distler J, Garbe AI, Herrmann M, Hofbauer L, Hoffmann M, Jessberger R, Kornak U, Krönke G, Mundlos S, Spies C, Tuckermann J, Zwerina J.

Z Rheumatol. 2018 May;77(Suppl 1):12-15. doi: 10.1007/s00393-018-0455-0. Review. German. No abstract available.

PMID:
29691689
9.

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.

Ramaekers VT, Segers K, Sequeira JM, Koenig M, Van Maldergem L, Bours V, Kornak U, Quadros EV.

Mol Genet Metab. 2018 May;124(1):87-93. doi: 10.1016/j.ymgme.2018.03.001. Epub 2018 Mar 3.

PMID:
29661558
10.

Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses.

Khayal LA, Grünhagen J, Provazník I, Mundlos S, Kornak U, Robinson PN, Ott CE.

Bone. 2018 Aug;113:29-40. doi: 10.1016/j.bone.2018.04.006. Epub 2018 Apr 11.

PMID:
29653293
11.

Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2.

Butscheidt S, Delsmann A, Rolvien T, Barvencik F, Al-Bughaili M, Mundlos S, Schinke T, Amling M, Kornak U, Oheim R.

Osteoporos Int. 2018 Jul;29(7):1643-1651. doi: 10.1007/s00198-018-4499-4. Epub 2018 Mar 29.

PMID:
29594386
12.

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.

Chan WL, Steiner M, Witkos T, Egerer J, Busse B, Mizumoto S, Pestka JM, Zhang H, Hausser I, Khayal LA, Ott CE, Kolanczyk M, Willie B, Schinke T, Paganini C, Rossi A, Sugahara K, Amling M, Knaus P, Chan D, Lowe M, Mundlos S, Kornak U.

PLoS Genet. 2018 Mar 21;14(3):e1007242. doi: 10.1371/journal.pgen.1007242. eCollection 2018 Mar.

13.

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.

Mrosk J, Bhavani GS, Shah H, Hecht J, Krüger U, Shukla A, Kornak U, Girisha KM.

Bone. 2018 May;110:368-377. doi: 10.1016/j.bone.2018.02.029. Epub 2018 Feb 27.

PMID:
29499418
14.

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, Van Maldergem L.

Am J Med Genet A. 2018 Mar;176(3):668-675. doi: 10.1002/ajmg.a.38604. Epub 2018 Jan 17.

15.

Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Jan 11. doi: 10.1038/gim.2017.253. [Epub ahead of print] Erratum in: Genet Med. 2018 Sep 10;:.

PMID:
29323665
16.

Examining tissue composition, whole-bone morphology and mechanical behavior of GorabPrx1 mice tibiae: A mouse model of premature aging.

Yang H, Albiol L, Chan WL, Wulsten D, Seliger A, Thelen M, Thiele T, Spevak L, Boskey A, Kornak U, Checa S, Willie BM.

J Biomech. 2017 Dec 8;65:145-153. doi: 10.1016/j.jbiomech.2017.10.018. Epub 2017 Oct 25.

PMID:
29108851
17.

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmüller J, Netzer C, Thiele H, Nürnberg P, Yigit G, Jäger M, Hecht J, Krüger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U.

Am J Hum Genet. 2017 Nov 2;101(5):833-843. doi: 10.1016/j.ajhg.2017.09.016.

18.

Congenital disorders of glycosylation (CDG): Quo vadis?

Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Pérez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J.

Eur J Med Genet. 2017 Oct 25. pii: S1769-7212(17)30494-9. doi: 10.1016/j.ejmg.2017.10.012. [Epub ahead of print] Review.

19.

Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II).

Butscheidt S, Rolvien T, Kornak U, Schmidt FN, Schinke T, Amling M, Oheim R.

Calcif Tissue Int. 2018 Jan;102(1):41-52. doi: 10.1007/s00223-017-0332-x. Epub 2017 Oct 10.

PMID:
29018903
20.

A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern.

Rolvien T, Kornak U, Stürznickel J, Schinke T, Amling M, Mundlos S, Oheim R.

Osteoporos Int. 2018 Jan;29(1):243-246. doi: 10.1007/s00198-017-4224-8. Epub 2017 Sep 15.

PMID:
28916840
21.

Sost deficiency led to a greater cortical bone formation response to mechanical loading and altered gene expression.

Pflanz D, Birkhold AI, Albiol L, Thiele T, Julien C, Seliger A, Thomson E, Kramer I, Kneissel M, Duda GN, Kornak U, Checa S, Willie BM.

Sci Rep. 2017 Aug 25;7(1):9435. doi: 10.1038/s41598-017-09653-9.

22.

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

Horn D, Siebert E, Seidel U, Rost I, Mayer K, Abou Jamra R, Mitter D, Kornak U.

Am J Med Genet A. 2017 Sep;173(9):2534-2538. doi: 10.1002/ajmg.a.38345. Epub 2017 Jul 25.

PMID:
28742248
23.

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.

Afzal M, Zaman Q, Kornak U, Mundlos S, Malik S, Flöttmann R.

Eur J Med Genet. 2017 Aug;60(8):421-425. doi: 10.1016/j.ejmg.2017.05.004. Epub 2017 May 27.

PMID:
28559208
24.

Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.

Schoner K, Bald R, Horn D, Rehder H, Kornak U, Ehmke N.

Am J Med Genet A. 2017 Jun;173(6):1694-1697. doi: 10.1002/ajmg.a.38209. Epub 2017 Apr 19.

PMID:
28422407
25.

Disruption of the vacuolar-type H+-ATPase complex in liver causes MTORC1-independent accumulation of autophagic vacuoles and lysosomes.

Kissing S, Rudnik S, Damme M, Lüllmann-Rauch R, Ichihara A, Kornak U, Eskelinen EL, Jabs S, Heeren J, De Brabander JK, Haas A, Saftig P.

Autophagy. 2017 Apr 3;13(4):670-685. doi: 10.1080/15548627.2017.1280216. Epub 2017 Jan 27.

26.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA.

Am J Hum Genet. 2017 Feb 2;100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010. Epub 2017 Jan 5.

27.

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.

Al-Bughaili M, Neuhann TM, Flöttmann R, Mundlos S, Spielmann M, Kornak U, Fischer-Zirnsak B.

J Hum Genet. 2017 Feb;62(2):325-328. doi: 10.1038/jhg.2016.111. Epub 2016 Sep 8.

PMID:
27604556
28.

A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis.

Rolvien T, Koehne T, Kornak U, Lehmann W, Amling M, Schinke T, Oheim R.

J Bone Miner Res. 2017 Feb;32(2):277-284. doi: 10.1002/jbmr.2980. Epub 2016 Sep 9.

29.

The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface.

Seifert W, Posor Y, Schu P, Stenbeck G, Mundlos S, Klaassen S, Nürnberg P, Haucke V, Kornak U, Kühnisch J.

Hum Mol Genet. 2016 Sep 1;25(17):3836-3848. doi: 10.1093/hmg/ddw230. Epub 2016 Jul 27.

PMID:
27466194
30.

CLCN7-Related Osteopetrosis.

Sobacchi C, Villa A, Schulz A, Kornak U.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 Feb 12 [updated 2016 Jun 9].

31.

An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.

Mackenroth L, Fischer-Zirnsak B, Egerer J, Hecht J, Kallinich T, Stenzel W, Spors B, von Moers A, Mundlos S, Kornak U, Gerhold K, Horn D.

Am J Med Genet A. 2016 Apr;170A(4):1080-5. doi: 10.1002/ajmg.a.37547. Epub 2016 Jan 22.

PMID:
26799614
32.

The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity.

Goyal M, Singh A, Kornak U, Kapoor S.

Indian J Dermatol. 2015 Sep-Oct;60(5):521. doi: 10.4103/0019-5154.164434.

33.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U.

Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27.

34.

Key features and clinical variability of COG6-CDG.

Rymen D, Winter J, Van Hasselt PM, Jaeken J, Kasapkara C, Gokçay G, Haijes H, Goyens P, Tokatli A, Thiel C, Bartsch O, Hecht J, Krawitz P, Prinsen HC, Mildenberger E, Matthijs G, Kornak U.

Mol Genet Metab. 2015 Nov;116(3):163-70. doi: 10.1016/j.ymgme.2015.07.003. Epub 2015 Jul 29.

PMID:
26260076
35.

GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.

Egerer J, Emmerich D, Fischer-Zirnsak B, Chan WL, Meierhofer D, Tuysuz B, Marschner K, Sauer S, Barr FA, Mundlos S, Kornak U.

J Invest Dermatol. 2015 Oct;135(10):2368-2376. doi: 10.1038/jid.2015.192. Epub 2015 May 22.

36.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.

Eur J Hum Genet. 2015 May;23(5):720. doi: 10.1038/ejhg.2014.278. No abstract available.

37.

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.

Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K.

Clin Genet. 2016 Jan;89(1):34-43. doi: 10.1111/cge.12594. Epub 2015 Apr 29.

PMID:
25850958
38.

ATP6V0A2-Related Cutis Laxa.

Van Maldergem L, Dobyns W, Kornak U.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2009 Mar 19 [updated 2015 Feb 12].

39.

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Ehmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, Wieczorek D, Gillessen-Kaesbach G, Hoff K, Kawalia A, Thiele H, Altmüller J, Fischer-Zirnsak B, Knaus A, Zhu N, Heinrich V, Huber C, Harabula I, Spielmann M, Horn D, Kornak U, Hecht J, Krawitz PM, Nürnberg P, Siebert R, Manzke H, Mundlos S.

Am J Hum Genet. 2014 Dec 4;95(6):763-70. doi: 10.1016/j.ajhg.2014.11.004.

40.

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

Stephen J, Girisha KM, Dalal A, Shukla A, Shah H, Srivastava P, Kornak U, Phadke SR.

Eur J Med Genet. 2015 Jan;58(1):21-7. doi: 10.1016/j.ejmg.2014.10.001. Epub 2014 Oct 24.

PMID:
25450603
41.

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

Zemojtel T, Köhler S, Mackenroth L, Jäger M, Hecht J, Krawitz P, Graul-Neumann L, Doelken S, Ehmke N, Spielmann M, Oien NC, Schweiger MR, Krüger U, Frommer G, Fischer B, Kornak U, Flöttmann R, Ardeshirdavani A, Moreau Y, Lewis SE, Haendel M, Smedley D, Horn D, Mundlos S, Robinson PN.

Sci Transl Med. 2014 Sep 3;6(252):252ra123. doi: 10.1126/scitranslmed.3009262.

42.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.

Eur J Hum Genet. 2015 May;23(5):633-8. doi: 10.1038/ejhg.2014.109. Epub 2014 Jun 11. Erratum in: Eur J Hum Genet. 2015 May;23(5):720.

43.

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

Fischer B, Callewaert B, Schröter P, Coucke PJ, Schlack C, Ott CE, Morroni M, Homann W, Mundlos S, Morava E, Ficcadenti A, Kornak U.

Mol Genet Metab. 2014 Aug;112(4):310-6. doi: 10.1016/j.ymgme.2014.05.003. Epub 2014 May 21.

PMID:
24913064
44.

Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions.

Weinert S, Jabs S, Hohensee S, Chan WL, Kornak U, Jentsch TJ.

EMBO Rep. 2014 Jul;15(7):784-91. doi: 10.15252/embr.201438553. Epub 2014 May 12.

45.

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, Kornak U, Lebrun F, Lombet J, Piérard GE, Robinson PN, Symoens S, Van Maldergem L, Debray FG.

Eur J Med Genet. 2014 Apr;57(5):230-4. doi: 10.1016/j.ejmg.2014.02.012. Epub 2014 Mar 6.

PMID:
24613577
46.

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.

Greally MT, Kalis NN, Agab W, Ardati K, Giurgea S, Kornak U, Van Maldergem L.

Am J Med Genet A. 2014 May;164A(5):1245-53. doi: 10.1002/ajmg.a.36411. Epub 2014 Jan 29.

PMID:
24478233
47.

Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1.

Kühnisch J, Seto J, Lange C, Schrof S, Stumpp S, Kobus K, Grohmann J, Kossler N, Varga P, Osswald M, Emmerich D, Tinschert S, Thielemann F, Duda G, Seifert W, El Khassawna T, Stevenson DA, Elefteriou F, Kornak U, Raum K, Fratzl P, Mundlos S, Kolanczyk M.

PLoS One. 2014 Jan 21;9(1):e86115. doi: 10.1371/journal.pone.0086115. eCollection 2014.

48.

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Gießelmann S, Beil FT, Pou-Serradell A, Vílchez JJ, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe P, Hübner CA, Gal A, Amling M, Mundlos S, Baets J, Kurth I.

Brain. 2014 Mar;137(Pt 3):683-92. doi: 10.1093/brain/awt357. Epub 2014 Jan 22.

PMID:
24459106
49.

CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.

Barvencik F, Kurth I, Koehne T, Stauber T, Zustin J, Tsiakas K, Ludwig CF, Beil FT, Pestka JM, Hahn M, Santer R, Supanchart C, Kornak U, Del Fattore A, Jentsch TJ, Teti A, Schulz A, Schinke T, Amling M.

J Bone Miner Res. 2014 Apr;29(4):982-91. doi: 10.1002/jbmr.2100.

50.

ClC-7 expression levels critically regulate bone turnover, but not gastric acid secretion.

Supanchart C, Wartosch L, Schlack C, Kühnisch J, Felsenberg D, Fuhrmann JC, de Vernejoul MC, Jentsch TJ, Kornak U.

Bone. 2014 Jan;58:92-102. doi: 10.1016/j.bone.2013.09.022. Epub 2013 Oct 5.

PMID:
24103576

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