Eli Sprecher

Summary

Country: Israel

Publications

  1. doi request reprint Epidermolysis bullosa simplex
    Eli Sprecher
    Department of Dermatology, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv 64239, Israel
    Dermatol Clin 28:23-32. 2010
  2. pmc Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification
    Eli Sprecher
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    J Invest Dermatol 130:652-60. 2010
  3. doi request reprint Epidermolysis bullosa care in Israel
    Eli Sprecher
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Dermatol Clin 28:429-30, xv. 2010
  4. doi request reprint The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12
    Tomer Goldsmith
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Exp Dermatol 22:251-4. 2013
  5. pmc Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation
    Ofer Sarig
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv 642395, Israel
    Am J Hum Genet 91:337-42. 2012
  6. ncbi request reprint Rapid detection of homozygous mutations in congenital recessive ichthyosis
    Jennie Lugassy
    Department of Dermatology, Laboratory of Molecular Dermatology, Rambam Health Care Campus, Rambam Medical Center, Haifa, Israel
    Arch Dermatol Res 300:81-5. 2008
  7. pmc A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis
    Shirli Israeli
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv 64239, Israel
    Am J Hum Genet 88:482-7. 2011
  8. pmc A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia
    Janna Nousbeck
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Am J Hum Genet 89:302-7. 2011
  9. doi request reprint Topobiology of human pigmentation: P-cadherin selectively stimulates hair follicle melanogenesis
    Liat Samuelov
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    J Invest Dermatol 133:1591-600. 2013
  10. pmc Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting
    Liat Samuelov
    1 Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel 2
    Nat Genet 45:1244-8. 2013

Collaborators

Detail Information

Publications42

  1. doi request reprint Epidermolysis bullosa simplex
    Eli Sprecher
    Department of Dermatology, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv 64239, Israel
    Dermatol Clin 28:23-32. 2010
    ..Major advances in understanding of the molecular basis of EBS and other keratin disorders have led to the development of DNA-based prenatal testing...
  2. pmc Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification
    Eli Sprecher
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    J Invest Dermatol 130:652-60. 2010
    ..The data gathered through the study of these rare disorders have recently led to the discovery of novel aspects of the pathogenesis of common disorders in humans, underscoring the potential concealed within the study of rare diseases...
  3. doi request reprint Epidermolysis bullosa care in Israel
    Eli Sprecher
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Dermatol Clin 28:429-30, xv. 2010
    ..As a consequence the molecular epidemiology of epidermolysis bullosa differs markedly in this country and surrounding areas from that reported in the Western world...
  4. doi request reprint The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12
    Tomer Goldsmith
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Exp Dermatol 22:251-4. 2013
    ..Synonymous mutations have been shown to uncommonly cause inherited disorders in humans. Here, we present the first example of a congenital form of ichthyosis resulting from such a genetic defect...
  5. pmc Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation
    Ofer Sarig
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv 642395, Israel
    Am J Hum Genet 91:337-42. 2012
    ..Collectively, our data underscore the importance of POC1A for proper bone, hair, and nail formation and highlight the importance of normal centrosomes in Golgi assembly and trafficking from the plasma membrane to the Golgi apparatus...
  6. ncbi request reprint Rapid detection of homozygous mutations in congenital recessive ichthyosis
    Jennie Lugassy
    Department of Dermatology, Laboratory of Molecular Dermatology, Rambam Health Care Campus, Rambam Medical Center, Haifa, Israel
    Arch Dermatol Res 300:81-5. 2008
    ..2058delC) and FLJ39501 (p.W521X). The present data demonstrate that the molecular analyses of CRI in consanguineous families can be readily completed in less than 96 h at relatively low costs...
  7. pmc A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis
    Shirli Israeli
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv 64239, Israel
    Am J Hum Genet 88:482-7. 2011
    ..LIPN encodes one of six acid lipases known to be involved in triglyceride metabolism in mammals . LIPN was found to be exclusively expressed in the epidermis and to be strongly induced during keratinocyte differentiation...
  8. pmc A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia
    Janna Nousbeck
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Am J Hum Genet 89:302-7. 2011
    ..Taken together, the present findings implicate a skin-specific isoform of SMARCAD1 in the regulation of dermatoglyph development...
  9. doi request reprint Topobiology of human pigmentation: P-cadherin selectively stimulates hair follicle melanogenesis
    Liat Samuelov
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    J Invest Dermatol 133:1591-600. 2013
    ..Thus, P-cadherin-mediated signaling is a melanocyte subtype-specific topobiological regulator of normal human pigmentation, possibly via GSK3β-mediated canonical Wnt signaling...
  10. pmc Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting
    Liat Samuelov
    1 Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel 2
    Nat Genet 45:1244-8. 2013
    ..Our deciphering of the pathogenesis of SAM syndrome substantiates the notion that allergy may result from a primary structural epidermal defect. ..
  11. doi request reprint A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families
    Sagi Nahum
    Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Medical Center, Rambam Health Care Campus, POB 9602, 31096, Haifa, Israel
    Arch Dermatol Res 301:391-3. 2009
    ..Through the identification of the first duplication mutation in the human LIPH gene, we provide further evidence supporting a role for the phospholipase signalling pathway in hair growth and differentiation...
  12. doi request reprint A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center and the Bruce Rappaport Faculty of Medicine, Technion Israel, Institute of Technology, Haifa, Israel
    Am J Dermatopathol 30:101-5. 2008
    ..In conclusion, varying degrees of dyskeratosis are frequently present in EHK and EPPK and should be considered to be a histological characteristic of these disorders...
  13. pmc Cole Disease Results from Mutations in ENPP1
    Ori Eytan
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv 642395, Israel Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel
    Am J Hum Genet 93:752-7. 2013
    ..Previously, biallelic mutations in ENPP1 were shown to underlie a number of recessive conditions characterized by ectopic calcification, thus providing evidence of profound phenotypic heterogeneity in ENPP1-associated genetic diseases. ..
  14. ncbi request reprint Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14
    Avikam Harel
    Pediatric Dermatology Unit, Dana s Children s Hospital, Sourasky Medical Center, Tel Aviv, Haifa, Israel
    J Invest Dermatol 126:1654-7. 2006
  15. doi request reprint Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris
    Ofer Sarig
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    J Invest Dermatol 132:1798-805. 2012
    ..Further supporting the relevance of ST18 to PV, we found this gene to be overexpressed in the skin of PV patients as compared with healthy individuals...
  16. pmc Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis
    Janna Nousbeck
    Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Health Care Campus, 31096 Haifa, Israel
    Am J Hum Genet 82:1114-21. 2008
    ....
  17. doi request reprint Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center, Haifa, Israel
    J Am Acad Dermatol 62:107-13. 2010
    ..Recent developments in molecular genetics may lead to re-examination of the histopathology of inherited palmoplantar keratodermas (PPKs) based on more precise groupings of the various entities and syndromes...
  18. doi request reprint Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B
    Dov Hershkovitz
    Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Medical Center, PO Box 9602, Haifa 31096, Israel
    Arch Dermatol 144:334-40. 2008
    ..1. Neurological signs and ichthyosis almost invariably accompany the disease...
  19. pmc Familial pityriasis rubra pilaris is caused by mutations in CARD14
    Dana Fuchs-Telem
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Israel
    Am J Hum Genet 91:163-70. 2012
    ..The present data demonstrate that autosomal-dominant PRP is allelic to familial psoriasis, which was recently shown to also be caused by mutations in CARD14...
  20. doi request reprint Inflammatory peeling skin syndrome caused a novel mutation in CDSN
    Dana Fuchs Telem
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Arch Dermatol Res 304:251-5. 2012
    ..Thr57ProfsX6). These data further support the notion that corneodesmosin deficiency impairs cell-cell adhesion in the upper epidermis, paving the way for an abnormal inflammatory response due to epidermal barrier disruption...
  21. ncbi request reprint Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred
    Polina Specktor
    Department of Dermatology, Laboratory of Molecular Dermatology, Rambam Medical Center, POB 9602, 31096, Haifa, Israel
    J Hum Genet 51:487-90. 2006
    ..The present results expand the spectrum of known mutations in GALNT3 and demonstrate the existence of HFTC-causing mutations in this gene outside the Middle Eastern and African-American populations...
  22. ncbi request reprint Dyskeratosis as a histologic feature in epidermolysis bullosa simplex-Dowling Meara
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center and the Bruce Rappaport Faculty of Medicine, Technion Israel, Institute of Technology, Haifa 31096, Israel
    J Am Acad Dermatol 57:463-6. 2007
    ..Intracellular keratin aggregation and clumping is a characteristic ultrastructural feature in epidermolysis bullosa simplex (EBS)-Dowling Meara (DM) yet without histologic correlates in routinely stained specimens...
  23. doi request reprint ADULT syndrome caused by a mutation previously associated with EEC syndrome
    Emily Avitan-Hersh
    Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
    Pediatr Dermatol 27:643-5. 2010
    ..We present a 14-year-old female patient with ADULT syndrome and discuss phenotype-genotype correlations in the p63 syndromes...
  24. doi request reprint Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1
    Ofer Sarig
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Am J Med Genet A 161:2204-15. 2013
    ..Both mutations were found to lead to decreased or absent expression of SERAC1. The present findings indicate that infantile hepatopathy is a cardinal feature of MEGDEL syndrome. We thus propose to rename the disease MEGDHEL syndrome...
  25. doi request reprint P-cadherin regulates human hair growth and cycling via canonical Wnt signaling and transforming growth factor-β2
    Liat Samuelov
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    J Invest Dermatol 132:2332-41. 2012
    ..This model demonstrates that cadherins can be successfully knocked down in an intact human organ in vitro, and shows that P-cadherin is needed for anagen maintenance by regulating canonical Wnt signaling and suppressing TGFβ2...
  26. ncbi request reprint Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5
    Eli Sprecher
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    J Invest Dermatol 120:623-6. 2003
    ..Our results, together with previous observations, establish the existence of a subgroup of keratin disorders due to frameshift mutations altering the keratin tail domains that are characterized by phenotypic heterogeneity...
  27. ncbi request reprint Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families
    Eli Sprecher
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    J Invest Dermatol 122:647-51. 2004
    ..These two cases emphasize the role of molecular genetics in the assessment of congenital blistering in newborns and illustrate the importance of proper desmosomal activity for normal epidermis development and function...
  28. ncbi request reprint Human telomerase RNA component expression in Spitz nevi, common melanocytic nevi, and malignant melanomas
    Emma Guttman-Yassky
    Department of Dermatology, Rambam Medical Center, 31096 Haifa, Israel
    J Cutan Pathol 29:341-6. 2002
    ..The aim of the present study was to elucidate the pattern of expression of the human telomerase RNA (hTER) component in routinely processed specimens of Spitz nevi, malignant melanomas, and ordinary melanocytic nevi...
  29. ncbi request reprint Genetic hair and nail disorders
    Eli Sprecher
    Department of Dermatology and the Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa 31096, Israel
    Clin Dermatol 23:47-55. 2005
    ..The present review briefly describes major recent advances in our understanding of hair and nail genodermatoses...
  30. ncbi request reprint Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome
    Reuven Bergman
    The Department of Dermatology, Rambam Medical Center, Technion Israel, Institute of Technology, Haifa
    Am J Dermatopathol 27:333-8. 2005
    ..The hair follicle findings suggest disturbance in the hair cycle, which might be attributed to disturbed nuclear PKP1 function or result from aberrant desmosomal signaling...
  31. pmc A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma
    Eli Sprecher
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    Am J Hum Genet 77:242-51. 2005
    ..These data underscore the importance of vesicle trafficking regulatory mechanisms for proper neuroectodermal differentiation...
  32. ncbi request reprint Histopathology of hypotrichosis with juvenile macular dystrophy
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center and the Bruce Rappaport Faculty of Medicine, Haifa, Israel
    Am J Dermatopathol 26:205-9. 2004
    ..There were no signs of inflammation or scarring. Thus, the most frequent histologic abnormality in HJMD resembles chronic telogen effluvium. This suggests that absence of functional P-cadherin interferes with normal hair cycle...
  33. doi request reprint Patterned disorders in dermatology
    Ilan Goldberg
    Department of Dermatology, Tel Aviv Sourasky Medical Center, 6 Weizmann St, Tel Aviv 64239, Israel
    Clin Dermatol 29:498-503. 2011
    ..The study of these acquired patterned disorders in the future may help us to understand the biologic foundations and pathogenesis of common human diseases...
  34. ncbi request reprint Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13
    Mordechai Mizrachi-Koren
    Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Medical Center, Haifa, Israel
    J Invest Dermatol 125:456-62. 2005
    ..No deleterious mutations were identified within the coding region of this gene, suggesting the existence of another gene associated with epidermal differentiation on 12p11.2-q13...
  35. ncbi request reprint Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis
    Orit Topaz
    Department of Dermatology, Rambam Medical Center, Haifa, Israel
    Nat Genet 36:579-81. 2004
    ..Sequence analysis of GALNT3 identified biallelic deleterious mutations in all individuals with FTC, suggesting that defective post-translational modification underlies the disease...
  36. ncbi request reprint A comparison of anti-desmoglein antibodies and indirect immunofluorescence in the serodiagnosis of pemphigus vulgaris
    Irena Zagorodniuk
    Department of Dermatology, Rambam Medical Center and the Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    Int J Dermatol 44:541-4. 2005
    ....
  37. ncbi request reprint Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques
    Baruch Mevorah
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    J Am Acad Dermatol 53:S266-72. 2005
  38. ncbi request reprint Tumoral calcinosis: new insights for the rheumatologist into a familial crystal deposition disease
    Eli Sprecher
    Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Health Care Campus, Faculty of Medicine and Rappaport Institute for Research in the Medical Sciences, Technion, Israel
    Curr Rheumatol Rep 9:237-42. 2007
    ..This report reviews these advances as well as the potential implications of these discoveries for the management of acquired conditions associated with abnormal calcification...
  39. doi request reprint Sweet's syndrome-like neutrophilic dermatosis resulting from exposure to a radiocontrast agent
    Yossef Alper
    Department of Dermatology, Rambam Medical Center, and Technion Israel Institute of Technology, Bruce Rappaport Faculty of Medicine, Haifa, Israel
    J Am Acad Dermatol 58:488-9. 2008
    ....
  40. ncbi request reprint The alopecias associated with vitamin D-dependent rickets type IIA and with hairless gene mutations: a comparative clinical, histologic, and immunohistochemical study
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center, Bruce Rappaport Faculty of Medicine, Technion Institute of Technology, Haifa, Israel
    Arch Dermatol 141:343-51. 2005
    ..To establish the unique and common clinical and microscopic characteristics of the alopecias associated with vitamin D-dependent rickets (VDDR) type IIA and with hairless gene mutations...
  41. ncbi request reprint Genetic factors in the pathogenesis of UV-induced skin cancer1
    Eli Sprecher
    Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Medical Center, Haifa, Israel
    Curr Probl Dermatol 35:28-38. 2007
    ..This review examines major progress in our understanding of major hereditary and nonhereditary genetic modifiers involved in the pathogenesis of UV-induced skin cancer...
  42. ncbi request reprint A comparative study of immunohistochemistry and electron microscopy used in the diagnosis of epidermolysis bullosa
    Dan Petronius
    Department of Dermatology, Rambam Medical Center, Haifa, Israel
    Am J Dermatopathol 25:198-203. 2003
    ....