Jouni Uitto

Jouni Uitto

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Jouni Uitto

Publications by authors named "Jouni Uitto"

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Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations.

J Hepatol 2019 Aug 4;71(2):366-370. Epub 2019 Apr 4.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01688278193022
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http://dx.doi.org/10.1016/j.jhep.2019.03.026DOI Listing
August 2019

Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.

Am J Med Genet A 2019 Aug 11;179(8):1547-1555. Epub 2019 Jun 11.

Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.61260DOI Listing
August 2019

Reply to Van Gils and Vanakker.

J Invest Dermatol 2019 Jul 17;139(7):1600-1601. Epub 2019 Jan 17.

Department of Dermatology and Cutaneous Biology, and the Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X193001
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http://dx.doi.org/10.1016/j.jid.2019.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591060PMC
July 2019

Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out".

Matrix Biol 2019 Jul 11. Epub 2019 Jul 11.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.matbio.2019.07.002DOI Listing
July 2019

Adenovirus-Mediated ABCC6 Gene Therapy for Heritable Ectopic Mineralization Disorders.

J Invest Dermatol 2019 Jun 11;139(6):1254-1263. Epub 2019 Jan 11.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and PXE International Center of Excellence in Research and Clinical Care, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2018.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6535136PMC
June 2019

Pseudoxanthoma elasticum: Dermoscopy and mutation analysis.

Australas J Dermatol 2019 May 19;60(2):e156-e158. Epub 2018 Sep 19.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1111/ajd.12930DOI Listing
May 2019

A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis.

J Invest Dermatol 2019 May 29;139(5):1195-1198. Epub 2018 Nov 29.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183289
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http://dx.doi.org/10.1016/j.jid.2018.11.011DOI Listing
May 2019

Trauma-Induced Nanohydroxyapatite Deposition in Skeletal Muscle is Sufficient to Drive Heterotopic Ossification.

Calcif Tissue Int 2019 Apr 4;104(4):411-425. Epub 2018 Dec 4.

Department of Orthopaedics and Rehabilitation, Vanderbilt University Medical Center, 1215 21st Ave. South, Suite 4200 MCE, South Tower, Nashville, TN, 37232, USA.

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http://dx.doi.org/10.1007/s00223-018-0502-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6437294PMC
April 2019

Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic versus Non-Syndromic Skin Fragility Disorders.

J Invest Dermatol 2019 Mar 28;139(3):522-527. Epub 2018 Oct 28.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183271
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http://dx.doi.org/10.1016/j.jid.2018.10.017DOI Listing
March 2019

Inhibition of Tissue-Nonspecific Alkaline Phosphatase Attenuates Ectopic Mineralization in the Abcc6 Mouse Model of PXE but Not in the Enpp1 Mutant Mouse Models of GACI.

J Invest Dermatol 2019 Feb 18;139(2):360-368. Epub 2018 Aug 18.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1016/j.jid.2018.07.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6342656PMC
February 2019

Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development.

Am J Pathol 2019 Feb 7;189(2):216-225. Epub 2018 Nov 7.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, the PXE International Center of Excellence in Research and Clinical Care, and the Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania.

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https://linkinghub.elsevier.com/retrieve/pii/S00029440183045
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http://dx.doi.org/10.1016/j.ajpath.2018.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6412714PMC
February 2019

Genetic Susceptibility to Alopecia.

Authors:
Jouni Uitto

N Engl J Med 2019 02 13;380(9):873-876. Epub 2019 Feb 13.

From the Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Philadelphia.

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http://dx.doi.org/10.1056/NEJMe1900042DOI Listing
February 2019

Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis.

J Invest Dermatol 2019 Jan 20;139(1):241-244. Epub 2018 Jul 20.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183236
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http://dx.doi.org/10.1016/j.jid.2018.07.010DOI Listing
January 2019

Heritable Ectopic Mineralization Disorders: Pathomechanisms and Potential Treatment.

J Investig Dermatol Symp Proc 2018 Dec;19(2):S106-S107

Department of Dermatology and Cutaneous Biology, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1016/j.jisp.2018.10.007DOI Listing
December 2018

Precision Medicine for Heritable Skin Diseases-The Paradigm of Epidermolysis Bullosa.

J Investig Dermatol Symp Proc 2018 12;19(2):S74-S76

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1016/j.jisp.2018.09.004DOI Listing
December 2018

Zebrafish Models of Ectopic Mineralization-The Paradigm of Pseudoxanthoma Elasticum.

J Invest Dermatol 2018 11;138(11):2301-2304

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183235
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http://dx.doi.org/10.1016/j.jid.2018.07.007DOI Listing
November 2018

Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone.

Matrix Biol 2018 10 5;71-72:313-329. Epub 2018 Apr 5.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0945053X183006
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http://dx.doi.org/10.1016/j.matbio.2018.04.001DOI Listing
October 2018

Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases.

J Invest Dermatol 2018 09;138(9):1893-1900

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2018.06.170DOI Listing
September 2018

Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A.

J Invest Dermatol 2018 08 27;138(8):1736-1743. Epub 2018 Jun 27.

Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2018.04.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056331PMC
August 2018

Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum ( ).

Oncotarget 2018 Jul 20;9(56):30721-30730. Epub 2018 Jul 20.

Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.

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http://www.oncotarget.com/fulltext/10738
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http://dx.doi.org/10.18632/oncotarget.10738DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089405PMC
July 2018

Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses.

Front Microbiol 2018 12;9:1222. Epub 2018 Jun 12.

Department of Biomedicine, University Hospital of Basel, University of Basel, Basel, Switzerland.

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http://dx.doi.org/10.3389/fmicb.2018.01222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005841PMC
June 2018

The Conundrum of Allogeneic Bone Marrow Transplantation for Epidermolysis Bullosa.

Authors:
Jouni Uitto

J Invest Dermatol 2018 05 16;138(5):1029-1031. Epub 2017 Dec 16.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2017.12.009DOI Listing
May 2018

EB2017-Progress in Epidermolysis Bullosa Research toward Treatment and Cure.

J Invest Dermatol 2018 05 31;138(5):1010-1016. Epub 2018 Jan 31.

DEBRA International, Vienna, Austria.

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http://dx.doi.org/10.1016/j.jid.2017.12.016DOI Listing
May 2018

The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.

BMC Med Genet 2018 05 25;19(1):87. Epub 2018 May 25.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.

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http://dx.doi.org/10.1186/s12881-018-0581-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970508PMC
May 2018

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

Matrix Biol 2018 03 11;66:22-33. Epub 2017 Nov 11.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0945053X173024
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http://dx.doi.org/10.1016/j.matbio.2017.11.003DOI Listing
March 2018

Vascular Mineralization in Pseudoxanthoma Elasticum: Etidronate to the Rescue?

J Am Coll Cardiol 2018 03;71(10):1127-1129

Department of Dermatology and Cutaneous Biology, Jefferson Institute of Molecular Medicine, Sidney Kimmel Medical College, and PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1016/j.jacc.2018.01.018DOI Listing
March 2018

Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications.

J Invest Dermatol 2017 12 19;137(12):2649-2652. Epub 2017 Aug 19.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2017.07.830DOI Listing
December 2017

The Importance of Research Data Sharing: The Meeting Reports Section of the JID.

J Invest Dermatol 2017 12;137(12):2455-2456

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http://dx.doi.org/10.1016/j.jid.2017.10.010DOI Listing
December 2017

A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.

Orphanet J Rare Dis 2017 12 6;12(1):176. Epub 2017 Dec 6.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.

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http://dx.doi.org/10.1186/s13023-017-0728-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5717823PMC
December 2017

Plasma PPi Deficiency Is the Major, but Not the Exclusive, Cause of Ectopic Mineralization in an Abcc6 Mouse Model of PXE.

J Invest Dermatol 2017 11 23;137(11):2336-2343. Epub 2017 Jun 23.

Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College, and the PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X173166
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http://dx.doi.org/10.1016/j.jid.2017.06.006DOI Listing
November 2017

Pro-Inflammatory Chemokines and Cytokines Dominate the Blister Fluid Molecular Signature in Patients with Epidermolysis Bullosa and Affect Leukocyte and Stem Cell Migration.

J Invest Dermatol 2017 11 20;137(11):2298-2308. Epub 2017 Jul 20.

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X173185
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http://dx.doi.org/10.1016/j.jid.2017.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5651203PMC
November 2017

Elevated dietary magnesium during pregnancy and postnatal life prevents ectopic mineralization in Enpp1asj mice, a model for generalized arterial calcification of infancy.

Oncotarget 2017 Jun;8(24):38152-38160

Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College, and the PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, PA, USA.

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http://dx.doi.org/10.18632/oncotarget.16687DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503522PMC
June 2017

Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

JAMA Dermatol 2017 06;153(6):537-543

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut10Department of Genetics, Yale University School of Medicine, New Haven, Connecticut11Department of Pathology, Yale University School of Medicine, New Haven, Connecticut.

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http://dx.doi.org/10.1001/jamadermatol.2017.0202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817618PMC
June 2017

Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum.

J Invest Dermatol 2017 05 19;137(5):1025-1032. Epub 2017 Jan 19.

Department of Dermatology and Cutaneous Biology, The PXE International Center of Excellence in Research and Clinical Care, The Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X173003
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http://dx.doi.org/10.1016/j.jid.2016.11.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251403PMC
May 2017

Misbalanced CXCL12 and CCL5 Chemotactic Signals in Vitiligo Onset and Progression.

J Invest Dermatol 2017 05 26;137(5):1126-1134. Epub 2017 Jan 26.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.12.028DOI Listing
May 2017

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.

J Invest Dermatol 2017 03 21;137(3):678-685. Epub 2016 Nov 21.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.11.012DOI Listing
March 2017

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.

J Invest Dermatol 2017 03 27;137(3):660-669. Epub 2016 Oct 27.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.10.023DOI Listing
March 2017

Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability.

J Invest Dermatol 2017 02 15;137(2):525-528. Epub 2016 Oct 15.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.10.007DOI Listing
February 2017

Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.

J Invest Dermatol 2017 02 18;137(2):385-393. Epub 2016 Oct 18.

Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.07.043DOI Listing
February 2017

Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.

Am J Gastroenterol 2017 Feb;112(2):396-398

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/ajg.2016.533DOI Listing
February 2017

Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene.

Acta Derm Venereol 2017 01;97(1):108-109

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA 19107, Pennsylvania, USA.

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http://dx.doi.org/10.2340/00015555-2459DOI Listing
January 2017

Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa.

Matrix Biol 2017 01 3;57-58:76-85. Epub 2016 Aug 3.

Department of Dermatology, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1016/j.matbio.2016.07.009DOI Listing
January 2017

Highly branched poly(β-amino ester)s for skin gene therapy.

J Control Release 2016 12 8;244(Pt B):336-346. Epub 2016 Jun 8.

School of Materials Science and Engineering, Tianjin University, Tianjin, China; Charles Institute of Dermatology, School of Medicine and Biomedical Science, University College Dublin, Dublin 4, Ireland. Electronic address:

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http://dx.doi.org/10.1016/j.jconrel.2016.06.014DOI Listing
December 2016

Variable patterns of ectopic mineralization in Enpp1asj-2J mice, a model for generalized arterial calcification of infancy.

Oncotarget 2016 Dec;7(51):83837-83842

Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College and The PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, PA, USA.

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http://dx.doi.org/10.18632/oncotarget.13335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5341293PMC
December 2016

Stem Cell Therapy for Epidermolysis Bullosa-Does It Work?

J Invest Dermatol 2016 11;136(11):2119-2121

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.07.004DOI Listing
November 2016

KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family.

J Invest Dermatol 2016 09 7;136(9):1897-1901. Epub 2016 Jun 7.

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.05.106DOI Listing
September 2016

Mineral content of the maternal diet influences ectopic mineralization in offspring of Abcc6(-/-) mice.

Cell Cycle 2015 ;14(19):3184-9

a Department of Dermatology and Cutaneous Biology ; The Sidney Kimmel Medical College; Thomas Jefferson University ; Philadelphia , PA USA.

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http://dx.doi.org/10.1080/15384101.2015.1068473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4825565PMC
August 2016

Chemotaxis-driven disease-site targeting of therapeutic adult stem cells in dystrophic epidermolysis bullosa.

Stem Cell Res Ther 2016 08 27;7(1):124. Epub 2016 Aug 27.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 South 10th Street, BLSB, Rm. 430, Philadelphia, PA, 19107, USA.

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http://dx.doi.org/10.1186/s13287-016-0388-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002132PMC
August 2016

Type VII Collagen Replacement Therapy in Recessive Dystrophic Epidermolysis Bullosa-How Much, How Often?

J Invest Dermatol 2016 06;136(6):1079-1081

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.03.005DOI Listing
June 2016

Genotypic Heterogeneity and the Mode of Inheritance in Epidermolysis Bullosa.

JAMA Dermatol 2016 05;152(5):517-20

Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1001/jamadermatol.2015.5237DOI Listing
May 2016

Introduction to mini-review cluster on fibrotic diseases: A Festschrift to Joel Rosenbloom, M.D., Ph.D.

Authors:
Jouni Uitto

Matrix Biol 2016 04 22;51:5-6. Epub 2016 Jan 22.

Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College at Thomas Jefferson University, 233 S. 10(th) Street, Suite 450 BLSB, Philadelphia, PA 19107, United States. Electronic address:

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http://dx.doi.org/10.1016/j.matbio.2016.01.009DOI Listing
April 2016

Keloids: Animal models and pathologic equivalents to study tissue fibrosis.

Matrix Biol 2016 04 29;51:47-54. Epub 2016 Jan 29.

Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA 19107, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA. Electronic address:

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http://dx.doi.org/10.1016/j.matbio.2016.01.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4842112PMC
April 2016

Keloids: The paradigm of skin fibrosis - Pathomechanisms and treatment.

Matrix Biol 2016 04 2;51:37-46. Epub 2016 Feb 2.

Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.matbio.2016.01.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4842154PMC
April 2016

Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders.

J Invest Dermatol 2016 Mar;136(3):550-556

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2015.10.065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765001PMC
March 2016

Ectopic mineralization of cartilage and collagen-rich tendons and ligaments in Enpp1asj-2J mice.

Oncotarget 2016 Mar;7(11):12000-9

Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.

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http://dx.doi.org/10.18632/oncotarget.7455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4914264PMC
March 2016

Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).

Exp Dermatol 2016 Jan 13;25(1):17-9. Epub 2015 Oct 13.

Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.

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http://dx.doi.org/10.1111/exd.12826DOI Listing
January 2016

Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities.

J Invest Dermatol 2016 01;136(1):15-23

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1038/JID.2015.331DOI Listing
January 2016

Dual Effects of Bisphosphonates on Ectopic Skin and Vascular Soft Tissue Mineralization versus Bone Microarchitecture in a Mouse Model of Generalized Arterial Calcification of Infancy.

J Invest Dermatol 2016 Jan;136(1):275-283

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/JID.2015.377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731049PMC
January 2016

The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene.

Cell Cycle 2015 ;14(7):1082-9

a Department of Dermatology and Cutaneous Biology; Sidney Kimmel Medical College ; Thomas Jefferson University ; Philadelphia , PA USA.

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https://www.tandfonline.com/doi/full/10.1080/15384101.2015.1
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http://dx.doi.org/10.1080/15384101.2015.1007809DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4615006PMC
December 2015

Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa.

J Pediatr 2015 Sep 3;167(3):765-9.e1. Epub 2015 Jul 3.

Department of Pediatrics, New York Medical College, Valhalla, NY; Department of Medicine, New York Medical College, Valhalla, NY; Department of Pathology, New York Medical College, Valhalla, NY; Department of Microbiology and Immunology, New York Medical College, Valhalla, NY; Department of Cell Biology and Anatomy, New York Medical College, Valhalla, NY. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2015.05.051DOI Listing
September 2015

Juxta-articular joint-capsule mineralization in CD73 deficient mice: similarities to patients with NT5E mutations.

Cell Cycle 2014 ;13(16):2609-15

a Department of Dermatology and Cutaneous Biology ; Sidney Kimmel Medical College; Thomas Jefferson University ; Philadelphia , PA USA.

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http://dx.doi.org/10.4161/15384101.2014.943567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614381PMC
August 2015

Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: a large deletion/insertion mutation in the Enpp1 gene.

PLoS One 2014 5;9(12):e113542. Epub 2014 Dec 5.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0113542PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4257536PMC
July 2015

Keloid Pathogenesis: Potential Role of Cellular Fibronectin with the EDA Domain.

J Invest Dermatol 2015 Jul 16;135(7):1921-1924. Epub 2015 Feb 16.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1038/jid.2015.50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466014PMC
July 2015

Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-κB.

J Invest Dermatol 2015 Jul 3;135(7):1905-1908. Epub 2015 Mar 3.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1038/jid.2015.65DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466049PMC
July 2015

Molecular Genetics of Heritable Skin Diseases: Pseudoxanthoma Elasticum as a Paradigm of China-US Collaboration.

J Investig Dermatol Symp Proc 2015 Jul;17(1):20-1

Department of Dermatology, The Fourth Military Medical University, Xijing Hospital, Xi'an, Peoples Republic of China.

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https://linkinghub.elsevier.com/retrieve/pii/S10870024163000
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http://dx.doi.org/10.1038/jidsymp.2015.17DOI Listing
July 2015

Fibroadipose hyperplasia versus Proteus syndrome: segmental overgrowth with a mosaic mutation in the PIK3CA gene.

J Invest Dermatol 2015 May 23;135(5):1450-1453. Epub 2015 Jan 23.

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1038/jid.2015.15DOI Listing
May 2015

Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.

J Invest Dermatol 2015 May 23;135(5):1294-1302. Epub 2015 Jan 23.

Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi'an, China. Electronic address:

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http://dx.doi.org/10.1038/jid.2015.10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402129PMC
May 2015

Expression of transforming growth factor-β after different non-invasive facial rejuvenation modalities.

Int J Dermatol 2015 Apr 16;54(4):396-404. Epub 2014 Dec 16.

Department of Dermatology, Al-Minya University, Al-Minya, Egypt.

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http://dx.doi.org/10.1111/ijd.12435DOI Listing
April 2015

Next-generation sequencing for mutation detection in heritable skin diseases: the paradigm of pseudoxanthoma elasticum.

J Invest Dermatol 2015 Apr;135(4):937-940

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1038/jid.2014.521DOI Listing
April 2015

Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1.

Exp Dermatol 2015 Mar;24(3):220-2

Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.

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http://dx.doi.org/10.1111/exd.12620DOI Listing
March 2015

Changes in dermal fibroblasts from Abcc6(-/-) mice are present before and after the onset of ectopic tissue mineralization.

J Invest Dermatol 2014 Jul 13;134(7):1855-1861. Epub 2014 Feb 13.

Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:

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http://dx.doi.org/10.1038/jid.2014.88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4057957PMC
July 2014

Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant mice.

Lab Invest 2014 Jun 14;94(6):623-32. Epub 2014 Apr 14.

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.

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http://www.nature.com/articles/labinvest201452
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http://dx.doi.org/10.1038/labinvest.2014.52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4039617PMC
June 2014

Zebrafish as a model system to study skin biology and pathology.

J Invest Dermatol 2014 Jun;134(6):1-6

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1038/jid.2014.182DOI Listing
June 2014