Qiaoli Li

Qiaoli Li

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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

Mutations in and cause female infertility characterised by early embryonic arrest.

J Med Genet 2019 Jul 15;56(7):471-480. Epub 2019 Mar 15.

State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Zhongshan Hospital, School of Life Sciences, Fudan University, Shanghai, China.

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http://dx.doi.org/10.1136/jmedgenet-2018-105936DOI 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

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

A pannexin 1 channelopathy causes human oocyte death.

Sci Transl Med 2019 Mar;11(485)

Zhongshan Hospital, State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, China.

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http://dx.doi.org/10.1126/scitranslmed.aav8731DOI 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

The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility.

Eur J Hum Genet 2019 02 8;27(2):300-307. Epub 2018 Oct 8.

State Key Laboratory of Genetic Engineering, Zhongshan Hospital, Institutes of Biomedical Sciences and School of Life Sciences, Fudan University, Shanghai, 200032, China.

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http://www.nature.com/articles/s41431-018-0283-3
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http://dx.doi.org/10.1038/s41431-018-0283-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336793PMC
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

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

LncRNA DBH-AS1 facilitates the tumorigenesis of hepatocellular carcinoma by targeting miR-138 via FAK/Src/ERK pathway.

Biomed Pharmacother 2018 Nov 22;107:824-833. Epub 2018 Aug 22.

Department of Digestive Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, China. Electronic address:

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http://dx.doi.org/10.1016/j.biopha.2018.08.079DOI Listing
November 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

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

Novel mutations in genes encoding subcortical maternal complex proteins may cause human embryonic developmental arrest.

Reprod Biomed Online 2018 Jun 21;36(6):698-704. Epub 2018 Mar 21.

State key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, Zhongshan Hospital, Fudan University, Shanghai 200032, China; GMU-GIBH Joint School of Life Sciences, Guangzhou Medical University, Guangzhou 511436, China. Electronic address:

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http://dx.doi.org/10.1016/j.rbmo.2018.03.009DOI Listing
June 2018

Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility.

Am J Hum Genet 2018 04 29;102(4):649-657. Epub 2018 Mar 29.

State Key Laboratory of Genetic Engineering and School of Life Sciences, Institutes of Biomedical Sciences, Zhongshan Hospital, Fudan University, Shanghai 200032, China; GMU-GIBH Joint School of Life Sciences, Guangzhou Medical University, Guangzhou 511436, China. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985286PMC
April 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

The DNA methylation status of genes encoding Matrix metalloproteinases and tissue inhibitors of Matrix metalloproteinases in endometriosis.

Mol Reprod Dev 2018 01 21;85(1):17-25. Epub 2017 Dec 21.

Institutes of Biomedical Sciences, Fudan University, Shanghai, China.

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http://dx.doi.org/10.1002/mrd.22931DOI Listing
January 2018

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

Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest.

Am J Hum Genet 2017 Oct 28;101(4):609-615. Epub 2017 Sep 28.

State Key Laboratory of Genetic Engineering, Zhongshan Hospital, Institutes of Biomedical Sciences, School of Life Sciences, Fudan University, Shanghai 200032, China; Guangzhou Medical University and Guangzhou Institutes of Biomedicine and Health Joint School of Life Sciences, Guangzhou Medical University, Guangzhou 511436, China. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.08.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630194PMC
October 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

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

Detection of Turner syndrome using X-chromosome inactivation specific differentially methylated CpG sites: A pilot study.

Clin Chim Acta 2017 May 8;468:174-179. Epub 2017 Mar 8.

Children Hospital of Fudan University, Shanghai, China; Shanghai Key Laboratory of Prevention and Intervention of Birth Defects, Shanghai, China. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.03.008DOI Listing
May 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

Novel mutations and structural deletions in TUBB8: expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development.

Hum Reprod 2017 02 17;32(2):457-464. Epub 2016 Dec 17.

State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, MOE Key Laboratory of Contemporary Anthropology and School of Life Sciences, Fudan University, Shanghai 200032,

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http://dx.doi.org/10.1093/humrep/dew322DOI Listing
February 2017

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

A FBN1 mutation association with different phenotypes of Marfan syndrome in a Chinese family.

Clin Chim Acta 2016 Sep 25;460:102-6. Epub 2016 Jun 25.

Department of Cardiology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2016.06.031DOI Listing
September 2016

Genetic variations in the 3'-untranslated region of SLC18A2 are associated with serum FSH concentration in polycystic ovary syndrome patients and regulate gene expression in vitro.

Hum Reprod 2016 09 28;31(9):2150-7. Epub 2016 Jun 28.

State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai 200032, China Institutes of Biomedical Sciences, Fudan University, 138 Yixueyuan Road, Shanghai, China

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http://dx.doi.org/10.1093/humrep/dew162DOI 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

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

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

Mutations in TUBB8 and Human Oocyte Meiotic Arrest.

N Engl J Med 2016 Jan;374(3):223-32

From the State Key Laboratory of Genetic Engineering, Institutes of Biomedical Sciences, MOE Key Laboratory of Contemporary Anthropology, and Collaborative Innovation Center of Genetics and Development, School of Life Sciences, Fudan University (R.F., Q.S., Y.X., R.Q., X.W., H.W., Q.L., Q.X., L.J., L.H., L.W.), Shanghai Ji Ai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, Fudan University (X.S., M.Y., J.C.), Department of Otolaryngology, Eye and ENT Hospital, Fudan University (L.G.), Department of Integrative Medicine and Neurobiology, State Key Laboratory of Medical Neurobiology, and Shanghai Medical College, Fudan University (Y.F.), the Reproductive Medicine Center, Shanghai Ninth Hospital, Shanghai Jiao Tong University (Y.K., Z.Y., S.Z., B.L.), Shanghai Institute of Planned Parenthood Research (Z.S., M.L., H.S.), and Bio-X Center, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University (L.H.), Shanghai, Reproductive Medicine Center, Shaanxi Maternal and Child Care Service Center, Shaanxi (J.S.), and Key Laboratory for Developmental Genes and Human Disease, Ministry of Education, Institute of Life Sciences, Southeast University, Nanjing (R.C.) - all in China; the Department of Biochemistry and Molecular Pharmacology, New York University Langone Medical Center, New York (G.T., N.J.C.); the Department of Molecular Genetics and Cell Biology, University of Chicago, Chicago (A.L., Y. Fukuda, M.L.G.); the Department of Physiology-Endocrinology, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden (R.S.); the Department of Genetics, Development and Cell Biology, Iowa State University, Ames (M.L.G.); and the Life Sciences Division, Lawrence Berkeley National Laboratory (R.Z., E.N.), the Molecular and Cell Biology Department (E.N.), and the Howard Hughes Medical Institute (E.N.), University of California Berkeley, Berkeley.

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http://dx.doi.org/10.1056/NEJMoa1510791DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4767273PMC
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

Loci with genome-wide associations with schizophrenia in the Han Chinese population.

Br J Psychiatry 2015 Dec 23;207(6):490-4. Epub 2015 Jul 23.

Zhiqiang Li, PhD, Children's Hospital, Fudan University, Shanghai and Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai; Yuqian Xiang, PhD, Children's Hospital, Fudan University, Shanghai; Jianhua Chen, PhD, Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai; Qiaoli Li, PhD, Children's Hospital and Institutes of Biomedical Sciences, Fudan University, Shanghai; Jiawei Shen, PhD, Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai; Yun Liu, PhD, Institutes of Biomedical Sciences, Fudan University, Shanghai; Wenjin Li, PhD, Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai; Qinghe Xing, PhD, Institutes of Biomedical Sciences, Fudan University, Shanghai; Qingzhong Wang, PhD, Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai; Lei Wang, PhD, Institutes of Biomedical Sciences, Fudan University, Shanghai; Guoyin Feng, Shanghai Institute of Mental Health, Shanghai; Lin He, PhD, Children's Hospital, Fudan University, Shanghai and Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai; Xinzhi Zhao, PhD, Children's Hospital, Fudan University, Shanghai; Yongyong Shi, PhD, Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, People's Republic of China

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http://dx.doi.org/10.1192/bjp.bp.114.150490DOI Listing
December 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

Experimental validation of candidate schizophrenia gene CALN1 as a target for microRNA-137.

Neurosci Lett 2015 Aug 7;602:110-4. Epub 2015 Jul 7.

Children's Hospital and Institutes of Biomedical Sciences, Fudan University, 138 Yixueyuan Road, Shanghai 200032, PR China. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03043940153002
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http://dx.doi.org/10.1016/j.neulet.2015.07.001DOI Listing
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

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

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

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

Ildr1b is essential for semicircular canal development, migration of the posterior lateral line primordium and hearing ability in zebrafish: implications for a role in the recessive hearing impairment DFNB42.

Hum Mol Genet 2014 Dec 2;23(23):6201-11. Epub 2014 Jul 2.

State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai 200032, PR China, Institutes of Biomedical Sciences, Fudan University, No 138 Yixueyuan Road, Shanghai 200032, PR China,

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http://dx.doi.org/10.1093/hmg/ddu340DOI Listing
December 2014

Quantitative methylation level of the EPHX1 promoter in peripheral blood DNA is associated with polycystic ovary syndrome.

PLoS One 2014 5;9(2):e88013. Epub 2014 Feb 5.

State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China ; Institutes of Biomedical Science, Fudan University, Shanghai, China ; Bio-X Center, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0088013PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3914883PMC
November 2014

Mouse models for pseudoxanthoma elasticum: genetic and dietary modulation of the ectopic mineralization phenotypes.

PLoS One 2014 19;9(2):e89268. Epub 2014 Feb 19.

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0089268PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3929712PMC
October 2014

Prenatal nutritional deficiency reprogrammed postnatal gene expression in mammal brains: implications for schizophrenia.

Int J Neuropsychopharmacol 2014 Oct 31;18(4). Epub 2014 Oct 31.

Children's Hospital and Institutes of Biomedical Sciences, Fudan University, Shanghai, China (Drs Xu, Zhou, T. Wang, Xiang, Xing, Liu, L. Wang, Li, L. He and X. Zhao); Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China (Drs Xu, G. He, Zhou, T. Wang, Xiang, Q. Zhao, Xing, Liu, L.Wang, Li, L. He and X. Zhao); Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Shanghai, China (Dr Xu); Cancer Epigenetics and Gene Therapy Program, Shanghai Cancer Institute, Shanghai Jiao Tong University, Shanghai, China (Dr Zhu); Department of Mental Health, University of Aberdeen, Scotland (Dr St Clair).

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http://dx.doi.org/10.1093/ijnp/pyu054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4360220PMC
October 2014

DNA methylome profiling of maternal peripheral blood and placentas reveal potential fetal DNA markers for non-invasive prenatal testing.

Mol Hum Reprod 2014 Sep 4;20(9):875-84. Epub 2014 Jul 4.

Children's Hospital and Institutes of Biomedical Sciences, Fudan University, 138 Yixueyuan Road, Shanghai 200032, China

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http://dx.doi.org/10.1093/molehr/gau048DOI Listing
September 2014

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

Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins.

J Invest Dermatol 2014 Apr 11;134(4):946-953. Epub 2013 Nov 11.

Institute of Enzymology, RCNS, Hungarian Academy of Sciences, Budapest, Hungary. Electronic address:

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http://dx.doi.org/10.1038/jid.2013.482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962510PMC
April 2014

Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.

J Invest Dermatol 2014 Mar 5;134(3):658-665. Epub 2013 Sep 5.

Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1038/jid.2013.370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3945730PMC
March 2014

A possible new mechanism in the pathophysiology of polycystic ovary syndrome (PCOS): the discovery that leukocyte telomere length is strongly associated with PCOS.

J Clin Endocrinol Metab 2014 Feb 3;99(2):E234-40. Epub 2013 Dec 3.

State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology (Q.L., R.F., Y.X., H.W., Q.S., L.J., L.W.), School of Life Sciences, Fudan University, Shanghai, 200032, China; Institutes of Biomedical Sciences (Q.L., R.F., Y.X., H.W., Q.S., Q.X., X.Z., L.H., L.W.), Fudan University, Shanghai, 200032, China; Bio-X Center (L.H.), Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, 200032, China; and NPFPC Laboratory of Contraception and Devices, Shanghai Institute of Planned Parenthood Research (J.D.), Shanghai 200032, China.

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http://dx.doi.org/10.1210/jc.2013-3685DOI Listing
February 2014

Mouse alopecia areata and heart disease: know your mouse!

J Invest Dermatol 2014 Jan 17;134(1):279-281. Epub 2013 Jun 17.

Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

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http://dx.doi.org/10.1038/jid.2013.273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3825791PMC
January 2014

Ectopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcification.

Matrix Biol 2014 Jan 25;33:23-8. Epub 2013 Jul 25.

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, 233 S. 10th Street, Philadelphia, PA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.matbio.2013.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3902053PMC
January 2014

Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum.

Acta Derm Venereol 2013 Nov;93(6):739-40

Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.2340/00015555-1570DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006978PMC
November 2013

Atorvastatin counteracts aberrant soft tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6⁻/⁻).

J Mol Med (Berl) 2013 Oct 27;91(10):1177-84. Epub 2013 Jun 27.

Departments of Dermatology and Cutaneous Biology, and Biochemistry and Molecular Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, 233 South 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.

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http://dx.doi.org/10.1007/s00109-013-1066-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3783622PMC
October 2013

Cole Disease Results from Mutations in ENPP1.

Am J Hum Genet 2013 Oct 26;93(4):752-7. Epub 2013 Sep 26.

Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv 642395, Israel; Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2013.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3791268PMC
October 2013

Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy.

Dis Model Mech 2013 Sep 20;6(5):1227-35. Epub 2013 Jun 20.

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA.

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http://dx.doi.org/10.1242/dmm.012765DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3759342PMC
September 2013

Identification and functional study of a new missense mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

PLoS One 2013 29;8(1):e55178. Epub 2013 Jan 29.

State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, People's Republic of China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3558421PMC
July 2013

Mineralization/anti-mineralization networks in the skin and vascular connective tissues.

Am J Pathol 2013 Jul 8;183(1):10-8. Epub 2013 May 8.

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

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http://dx.doi.org/10.1016/j.ajpath.2013.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3702739PMC
July 2013

Zebrafish as a model system to study heritable skin diseases.

Methods Mol Biol 2013 ;961:411-24

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/978-1-62703-227-8_28DOI Listing
June 2013

Common genetic variation in CYP1B1 is associated with concentrations of T₄, FT₃ and FT₄ in the sera of polycystic ovary syndrome patients.

Mol Biol Rep 2013 Apr 3;40(4):3315-20. Epub 2013 Jan 3.

Department of Gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200011, China.

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http://link.springer.com/10.1007/s11033-012-2406-1
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April 2013

Warfarin accelerates ectopic mineralization in Abcc6(-/-) mice: clinical relevance to pseudoxanthoma elasticum.

Am J Pathol 2013 Apr 15;182(4):1139-50. Epub 2013 Feb 15.

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

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http://dx.doi.org/10.1016/j.ajpath.2012.12.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3620423PMC
April 2013

Promoter hypomethylation of TIMP3 is associated with pre-eclampsia in a Chinese population.

Mol Hum Reprod 2013 Mar 19;19(3):153-9. Epub 2012 Nov 19.

Children's Hospital and Institutes of Biomedical Sciences, Fudan University, 138 Yixueyuan Road, Shanghai, China.

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http://dx.doi.org/10.1093/molehr/gas054DOI Listing
March 2013

The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa.

Exp Dermatol 2013 Feb 23;22(2):88-92. Epub 2012 Oct 23.

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA.

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http://doi.wiley.com/10.1111/exd.12025
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http://dx.doi.org/10.1111/exd.12025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3556375PMC
February 2013

Quantitative analysis of follistatin (FST) promoter methylation in peripheral blood of patients with polycystic ovary syndrome.

Reprod Biomed Online 2013 Feb 23;26(2):157-63. Epub 2012 Oct 23.

State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.

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http://dx.doi.org/10.1016/j.rbmo.2012.10.011DOI Listing
February 2013

Heritable Ectopic Mineralization Disorders: The Paradigm of Pseudoxanthoma Elasticum.

J Invest Dermatol 2012 Nov;132 Suppl 3:E15-9

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

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http://dx.doi.org/10.1038/skinbio.2012.5DOI Listing
November 2012

Heritable ectopic mineralization disorders: the paradigm of pseudoxanthoma elasticum.

J Invest Dermatol 2012 Nov 15;132(E1):E15-9. Epub 2012 Nov 15.

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

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http://dx.doi.org/10.1038/skinbio.2012.5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006979PMC
November 2012

A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse.

Am J Pathol 2012 Oct 28;181(4):1190-6. Epub 2012 Jul 28.

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA.

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http://dx.doi.org/10.1016/j.ajpath.2012.06.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3463623PMC
October 2012

Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.

Pediatr Dermatol 2012 May-Jun;29(3):349-57. Epub 2011 Oct 20.

Department of Dermatology and Skin Surgery, Roger Williams Medical Center/Boston University School of Medicine, Providence, RI 02908, USA.

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http://doi.wiley.com/10.1111/j.1525-1470.2011.01425.x
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September 2012

Lack of support for association between the copy number variants in the FCGR locus and schizophrenia: a case control study.

Neurosci Lett 2012 Aug 1;522(2):85-91. Epub 2012 May 1.

Children's Hospital and Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, China.

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http://dx.doi.org/10.1016/j.neulet.2012.04.037DOI Listing
August 2012

Magnesium reduces carotid intima-media thickness in a mouse model of pseudoxanthoma elasticum: a novel treatment biomarker.

Clin Transl Sci 2012 Jun;5(3):259-64

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

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http://doi.wiley.com/10.1111/j.1752-8062.2011.00390.x
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http://dx.doi.org/10.1111/j.1752-8062.2011.00390.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3572782PMC
June 2012

Analysis of JAG1 gene variant in Chinese patients with Alagille syndrome.

Gene 2012 May 2;499(1):191-3. Epub 2012 Mar 2.

Children's Hospital of Fudan University, Shanghai, China; Institute of Biomedical Sciences, Fudan University, Shanghai, China.

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http://dx.doi.org/10.1016/j.gene.2012.02.038DOI Listing
May 2012

Connective tissue mineralization in Abcc6-/- mice, a model for pseudoxanthoma elasticum.

Matrix Biol 2012 May 6;31(4):246-52. Epub 2012 Mar 6.

Department of Bioengineering, Temple University, Philadelphia, PA 19122, USA.

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http://dx.doi.org/10.1016/j.matbio.2012.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3340454PMC
May 2012

ABCC6 does not transport adenosine - relevance to pathomechanism of pseudoxanthoma elasticum.

Mol Genet Metab 2011 Nov 20;104(3):421; author reply 422. Epub 2011 Jul 20.

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http://dx.doi.org/10.1016/j.ymgme.2011.07.013DOI Listing
November 2011

Matrix protein-specific IgA antibody inhibits measles virus replication by intracellular neutralization.

J Virol 2011 Nov 24;85(21):11090-7. Epub 2011 Aug 24.

Mucosal Immunity Research Group, State Key Laboratory of Virology, Wuhan Institute of Virology, Chinese Academy of Sciences, Wuhan 430071, China.

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http://dx.doi.org/10.1128/JVI.00768-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3194966PMC
November 2011

Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders - can diet help?

J Dtsch Dermatol Ges 2011 Aug 16;9(8):586-93. Epub 2011 Mar 16.

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

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http://dx.doi.org/10.1111/j.1610-0387.2011.07658.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3307339PMC
August 2011

The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development.

J Invest Dermatol 2011 Jul 17;131(7):1428-34. Epub 2011 Mar 17.

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/jid.2011.61DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3173943PMC
July 2011

Virucidal activity of a scorpion venom peptide variant mucroporin-M1 against measles, SARS-CoV and influenza H5N1 viruses.

Peptides 2011 Jul 19;32(7):1518-25. Epub 2011 May 19.

State Key Laboratory of Virology, Wuhan Institute of Virology, Chinese Academy of Sciences, Wuhan 430071, People's Republic of China.

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http://dx.doi.org/10.1016/j.peptides.2011.05.015DOI Listing
July 2011

Zebrafish: a model system to study heritable skin diseases.

J Invest Dermatol 2011 Mar 30;131(3):565-71. Epub 2010 Dec 30.

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

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http://dx.doi.org/10.1038/jid.2010.388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3342776PMC
March 2011

Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6 (-/-) mice, a model for pseudoxanthoma elasticum.

Cell Cycle 2011 Feb 15;10(4):701-7. Epub 2011 Feb 15.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3173996PMC
http://dx.doi.org/10.4161/cc.10.4.14862DOI Listing
February 2011