E Sprecher

Summary

Country: Israel

Publications

  1. 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
  2. ncbi A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification
    Ilana Chefetz
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, 9602, Haifa, Israel
    Hum Genet 118:261-6. 2005
  3. ncbi 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
  4. ncbi Hypotrichosis with juvenile macular dystrophy: clinical and electrophysiological assessment of visual function
    Rina Leibu
    Department of Ophthalmology, Rambam Medical Center, Haifa, Israel
    Ophthalmology 113:841-7.e3. 2006
  5. ncbi What syndrome is this? Bazex-Dupre-Christol syndrome
    Antonio Torrelo
    Department of Dermatology, Hospiatal del Niño Jesús, Madrid, Spain
    Pediatr Dermatol 23:286-90. 2006
  6. ncbi 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
  7. ncbi 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
  8. ncbi Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome
    E Sprecher
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    Clin Exp Dermatol 29:513-7. 2004
  9. ncbi Galli-Galli disease is an acantholytic variant of Dowling-Degos disease
    E Sprecher
    Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
    Br J Dermatol 156:572-4. 2007
  10. ncbi 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

Detail Information

Publications105 found, 100 shown here

  1. 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...
  2. ncbi A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification
    Ilana Chefetz
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, 9602, Haifa, Israel
    Hum Genet 118:261-6. 2005
    ..The mutation (M96T) was found to affect a highly conserved methionine residue at position 96 of the protein. These observations illustrate the extent of genetic and phenotypic heterogeneity in HFTC...
  3. ncbi 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
  4. ncbi Hypotrichosis with juvenile macular dystrophy: clinical and electrophysiological assessment of visual function
    Rina Leibu
    Department of Ophthalmology, Rambam Medical Center, Haifa, Israel
    Ophthalmology 113:841-7.e3. 2006
    ..To evaluate retinal function in subjects suffering from hypotrichosis with juvenile macular dystrophy (HJMD)...
  5. ncbi What syndrome is this? Bazex-Dupre-Christol syndrome
    Antonio Torrelo
    Department of Dermatology, Hospiatal del Niño Jesús, Madrid, Spain
    Pediatr Dermatol 23:286-90. 2006
  6. ncbi 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...
  7. ncbi 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...
  8. ncbi Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome
    E Sprecher
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    Clin Exp Dermatol 29:513-7. 2004
    ..In the present report, we describe a patient who was considered to have congenital ichthyosiform erythroderma for 26 years until molecular testing led to the correct diagnosis of Netherton syndrome...
  9. ncbi Galli-Galli disease is an acantholytic variant of Dowling-Degos disease
    E Sprecher
    Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
    Br J Dermatol 156:572-4. 2007
  10. ncbi 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...
  11. ncbi 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...
  12. ncbi 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...
  13. ncbi Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin
    E Sprecher
    Department of Dermatology, Rambam Medical Center, Haifa 31096, Israel
    Nat Genet 29:134-6. 2001
    ..These results establish the molecular etiology of HJMD and implicate for the first time a cadherin molecule in the pathogenesis of a human hair and retinal disorder...
  14. doi Novel mutations in DSG1 causing striate palmoplantar keratoderma
    D Hershkovitz
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Haifa, Israel
    Clin Exp Dermatol 34:224-8. 2009
    ..Striate palmoplantar keratoderma (SPPK) has been shown to be caused by mutations in at least three genes: DSG1, DSP and KRT1...
  15. ncbi Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
    M Indelman
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    Br J Dermatol 153:635-8. 2005
    ..HJMD was shown to result from mutations in CDH3 encoding P-cadherin...
  16. doi 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...
  17. ncbi Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1
    O Tal
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, and Mohs Surgery Unit, Assuta Medical Center, Tel Aviv, Israel
    Clin Exp Dermatol 30:64-7. 2005
    ..The identification of this unusual and novel mutation underscores the diagnostic importance of sequence analysis of keratin gene noncoding regions...
  18. ncbi A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome
    T Hershkovitz
    Laboratory of Molecular Dermatology, Rambam Medical Centre, Haifa, Israel
    Clin Exp Dermatol 31:435-40. 2006
    ..Prolidase deficiency is a complex disease characterized by various skin manifestations accompanied by mental retardation, facial dysmorphism and susceptibility to pyogenic infections...
  19. ncbi Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy
    M Indelman
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    Clin Exp Dermatol 32:191-6. 2007
    ..Most HJMD cases reported to date have been shown to be caused by homozygous CDH3 mutations segregating in consanguineous families...
  20. ncbi Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions
    M Indelman
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    Br J Dermatol 148:553-7. 2003
    ..Congenital atrichias represent a complex and heterogeneous group of genodermatoses, which have been shown in several consanguineous families to result from homozygous mutations in the hairless gene (HR)...
  21. pmc Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14
    Jennie Lugassy
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Technion Israel Institute of Technology, Haifa, Israel
    Am J Hum Genet 79:724-30. 2006
    ....
  22. ncbi Reduced folate carrier (RFC-1) gene expression in normal and psoriatic skin
    E Sprecher
    Department of Dermatology, Rambam Medical Center, Haifa, Israel
    Arch Dermatol Res 290:656-60. 1998
    ..These results suggest the existence of a specific methotrexate carrier in the human epidermis, and may bear relevance to the cutaneous manifestations of methotrexate toxicity...
  23. doi A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp
    S Nahum
    Center for Translational Genetics, Rappaport Institute for Research in the Medical Sciences, Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    Clin Exp Dermatol 36:188-94. 2011
    ..In a small number of families, the condition has been associated with mutations in three distinct genes: DSG4, LIPH and LPAR6...
  24. pmc Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias
    E Sprecher
    Department of Dermatology, Rambam Medical Center, Technion Israel Institute of Technology, Haifa 31096, Israel
    Am J Hum Genet 64:1323-9. 1999
    ....
  25. doi RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations
    D Hershkovitz
    Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Health Care Campus, P O Box 9602, Haifa 31096, Israel
    Br J Dermatol 158:1035-40. 2008
    ..CM-AVM is characterized by multiple, small CMs associated with either AVM or arteriovenous fistula (AVF) in affected individuals or at least one of their family members...
  26. ncbi A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria
    Daniella Magen
    Pediatric Nephrology Unit, Meyer Children s Hospital, Rambam Medical Center, Haifa, Israel
    Kidney Int 67:34-41. 2005
    ..The purpose of this study was to examine the phenotypic and genetic characteristics of three unrelated consanguineous families with FRG accompanied by aminoaciduria...
  27. pmc A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis
    Orit Topaz
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Haifa, Israel
    Am J Hum Genet 79:759-64. 2006
    ..Our data suggest that SAMD9 is involved in the regulation of extraosseous calcification, a process of considerable importance in a wide range of diseases as common as atherosclerosis and autoimmune disorders...
  28. ncbi A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy
    Margarita Indelman
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    J Invest Dermatol 119:1210-3. 2002
    ..Our data establish recessive mutations in CDH3 as the molecular cause of hypotrichosis with juvenile macular dystrophy and expand our understanding of the pathophysiology of this intriguing disorder...
  29. ncbi 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...
  30. doi Carotid disease in acute ischemic stroke patients of northern Israel
    G Telman
    Department of Neurology, Rambam Medical Center, Haifa, Israel
    Acta Neurol Scand 126:398-403. 2012
    ..The aim of the study was to determine factors associated with carotid disease in patients suffering from acute ischemic stroke in northern Israel...
  31. doi Potential relevance of low-intensity microembolic signals by TCD monitoring
    G Telman
    Department of Neurology, Rambam Health Care Campus, Technion Faculty of Medicine, Haifa, Israel
    Neurol Sci 32:107-11. 2011
    ..0006 and a degree of association of 0.24, as assessed by Cohen's kappa. There is a significant relationship between low- and high-intensity MES, thereby indicating that many MES routinely rejected because of their low intensity are real...
  32. doi Erythrokeratoderma variabilis caused by a recessive mutation in GJB3
    D Fuchs-Telem
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Clin Exp Dermatol 36:406-11. 2011
    ..3, respectively, and contribute to the formation of functional gap junctions in the epidermis...
  33. doi Chronic granulomatous disease of childhood: an unusual cause of recurrent uncommon infections in a 61-year-old man
    G Isman-Nelkenbaum
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Clin Exp Dermatol 36:759-62. 2011
    ..Mild forms of usually fatal immunodeficiencies should be considered when assessing the occurrence of unusual infectious diseases in apparently healthy people...
  34. ncbi Cerebral hemodynamics in symptomatic and asymptomatic patients with severe unilateral carotid stenosis before and after carotid endarterectomy
    G Telman
    Department of Neurology, Rambam Medical Center, P O B 9602, 31096 Haifa, Israel
    Eur J Vasc Endovasc Surg 32:375-8. 2006
    ..Transcranial Doppler (TCD) provides information regarding compensatory collateral flow as well as mechanisms of cerebral autoregulation in patients with carotid stenosis...
  35. ncbi Countable and non-countable microembolic signals by TCD in first-ever stroke or TIA patients with PFO
    G Telman
    Department of Neurology, Rambam Health Care Campus, Haifa, Israel
    J Neurol Sci 268:83-6. 2008
    ....
  36. ncbi Distribution of etiologies in patients above and below age 45 with first-ever ischemic stroke
    G Telman
    Department of Neurology, Rambam Medical Center, Technion Faculty of Medicine, Haifa, Israel
    Acta Neurol Scand 117:311-6. 2008
    ..There is limited information about distribution of etiologies of ischemic stroke in different age groups...
  37. doi Pretreatment with aspirin and etiology of first-ever ischemic stroke in young and middle-aged patients
    G Telman
    Department of Neurology, Rambam Health Care Campus, Technion Faculty of Medicine, Haifa, Israel
    J Neurol Sci 281:2-5. 2009
    ..There are very limited data on the influence of pretreatment with aspirin (ASA) on the etiology of subsequent first-ever ischemic stroke...
  38. doi Embolic potential and ultrasonic characteristics of plaques in patients with severe unilateral carotid restenosis more than one year after surgery
    G Telman
    Department of Neurology, Rambam Health Care Campus and Technion Faculty of Medicine, Haifa, Israel
    J Neurol Sci 285:85-7. 2009
    ....
  39. ncbi Diffuse alveolar hemorrhage following thrombolytic therapy for acute myocardial infarction
    M Yigla
    Division of Pulmonary Medicine, Rambam Medical Center and Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    Respiration 67:445-8. 2000
    ..Particular attention should be paid to the pulmonary status of patients with congestive heart failure scheduled to receive thrombolytic therapy...
  40. ncbi Assessment of ophthalmic artery collateral pathway in the hemispheric cerebral hemodynamics in patients with severe unilateral carotid stenosis
    G Telman
    Department of Neurology, Rambam Medical Center, Technion Faculty of Medicine, Haifa, Israel
    Neurol Res 25:309-11. 2003
    ..63) respectively. CVR in Group I was 26.1% +/- 6.1%, in Group II 29.0% +/- 6.7% (p = 0.65). The ophthalmic collateral pathway has no influence on hemispheric cerebral hemodynamics in patients with severe unilateral carotid stenosis...
  41. ncbi The nature of microemboli in patients with artificial heart valves
    G Telman
    Department of Neurology, Rambam Medical Center, Haifa, Israel
    J Neuroimaging 12:15-8. 2002
    ..No difference in intensity, duration, or relative velocity of microemboli was found between groups. The authors conclude that microemboli generated from artificial heart valves are generally gaseous and not solid...
  42. ncbi The role of corpus cavernosum electromyography
    Y Vardi
    Neuro urology unit, Rambam Medical Center, Haifa, Israel
    Curr Opin Urol 10:635-8. 2000
    ..This review covers some of the more important research and clinical papers published since its first description in 1989, with a special focus on recent advances in this field...
  43. ncbi 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...
  44. ncbi 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...
  45. ncbi 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...
  46. pmc Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein
    Ilana Chefetz
    Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
    J Invest Dermatol 128:1423-9. 2008
    ..These data link NFTC and SAMD9 to the TNF-alpha signaling pathway, suggesting a role for this system in the regulation of extra-osseous calcification...
  47. doi 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...
  48. doi 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...
  49. pmc GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity
    Ilana Chefetz
    Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
    Biochim Biophys Acta 1792:61-7. 2009
    ..Thus, the present data suggest that ppGalNacT3 may play a role in peripheral tissues of potential relevance to the pathogenesis of disorders of phosphate metabolism...
  50. pmc Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis
    Ilana Chefetz
    Center for Translational Genetics, Rappaport Institute for Research in the Medical Sciences, Haifa, Israel
    Biochim Biophys Acta 1792:847-52. 2009
    ....
  51. ncbi 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...
  52. 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...
  53. doi 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...
  54. doi 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...
  55. doi 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...
  56. ncbi 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...
  57. ncbi Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations
    Mordechai Mizrachi-Koren
    Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Medical Center, Haifa, Israel
    J Am Acad Dermatol 55:393-401. 2006
    ....
  58. ncbi Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis
    Orit Topaz
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    Am J Dermatopathol 27:211-5. 2005
    ..Our data provide for the first time evidence for ppGalNAc-T3 deficiency in the skin of HFTC patients and suggest that immunostaining of skin biopsy samples for ppGal-Nac-T3 might be a useful tool for the diagnosis of HFTC...
  59. ncbi Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1
    Hannah Keren
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    Arch Dermatol 141:625-8. 2005
    ..Mutations in genes coding for 2 desmosomal proteins, desmoglein 1 and desmoplakin, have been shown to cause autosomal dominant keratoderma palmoplantaris striata...
  60. ncbi 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...
  61. ncbi 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
  62. doi Size of PFO and amount of microembolic signals in patients with ischaemic stroke or TIA
    G Telman
    Department of Neurology, Echocardiography Laboratory, Rambam Health Care Campus and Technion Faculty of Medicine, Haifa, Israel
    Eur J Neurol 15:969-72. 2008
    ..The inter-relation between the size of patent foramen ovale (PFO) by transesophageal echocardiography (TEE) and the amount of microembolic signals (MES) on transcranial doppler (TCD) is still not determined...
  63. doi Comparison of risk factors and work-up in young and middle-aged patients with TIA and ischaemic stroke
    G Telman
    Department of Neurology, Rambam Health Care Campus, Technion Faculty of Medicine, Haifa, Israel
    Eur J Neurol 17:567-71. 2010
    ..Given that such data are limited, we compared the risk factor profiles and work-up results in young and middle-aged patients with TIA and ischaemic stroke...
  64. ncbi A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia
    Izabella Klein
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    J Invest Dermatol 119:920-2. 2002
    ..This study presents the first evidence in humans for the functional importance of the hairless thyroid receptor interacting domain 2...
  65. ncbi Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy
    Margarita Indelman
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    J Invest Dermatol 121:1217-20. 2003
    ....
  66. ncbi Epidermolysis bullosa simplex in Israel: clinical and genetic features
    Dan Ciubotaru
    The Gunther Kahn Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    Arch Dermatol 139:498-505. 2003
    ..Extensive studies in the United States and Europe have shown that EBS is almost always inherited in an autosomal dominant fashion...
  67. ncbi KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome
    Jennie Lugassy
    Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
    J Invest Dermatol 128:1517-24. 2008
    ....
  68. 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
    ....
  69. doi Asymmetric pain processing in Parkinson's disease
    Y Granovsky
    Department of Neurology, Rambam Health Care Campus, Haifa, Israel Laboratory of Clinical Neurophysiology, Faculty of Medicine, Technion, Haifa, Israel
    Eur J Neurol 20:1375-82. 2013
    ..The present study aimed to assess an endogenous pain inhibitory system in PD using the conditioned pain modulation paradigm...
  70. doi Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9
    D Fuchs-Telem
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Clin Exp Dermatol 38:189-92: quiz 192. 2013
    ..The present data indicate the need to screen keratin genes in their entirety, as mutations altering domains of lesser functional importance may exert their deleterious effect at the transcriptional level...
  71. doi Beneficial effect of acitretin in Chanarin-Dorfman syndrome
    S Israeli
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Clin Exp Dermatol 37:31-3. 2012
    ..The present case illustrates the beneficial effect of acitretin treatment in CDS even in the presence of compromised liver function...
  72. doi Insulin-like growth factor-binding protein 7 regulates keratinocyte proliferation, differentiation and apoptosis
    Janna Nousbeck
    Center for Translational Genetics, Rappaport Institute and Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    J Invest Dermatol 130:378-87. 2010
    ..These data position IGFBP7 as a regulator of KC proliferation and differentiation, suggesting a potential role for this protein in the pathophysiology and treatment of hyperproliferative dermatoses such as psoriasis...
  73. doi A novel mutation in RASA1 causes capillary malformation and limb enlargement
    Dov Hershkovitz
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Haifa, Israel
    Arch Dermatol Res 300:385-8. 2008
    ..A novel mutation in RASA1 was found to underlie the disease in this case. The present results illustrate the extensive degree of phenotypic heterogeneity associated with deleterious mutations in RASA1...
  74. ncbi Mono-nucleotide repeats (MNRs): a neglected polymorphism for generating high density genetic maps in silico
    Helit Cohen
    Department of Biotechnology and Food Engineering, Technion, Israel Institute of Technology, Haifa, Israel
    Hum Genet 115:213-20. 2004
    ..Thus, MNRs have potential for in silico saturation of sequenced eukaryote genomes with informative genetic markers...
  75. ncbi A newborn presenting with congenital blistering
    Izabella Klein
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    Int J Dermatol 43:295-7. 2004
  76. pmc SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4
    Hannah Mandel
    Metabolic Disease Unit, Meyer Children s Hospital, Haifa 31096, Israel
    Am J Hum Genet 82:39-47. 2008
    ..Taken together with previous observations in animal models, the present data attribute a pivotal role to WNT4 signaling during organogenesis in humans...
  77. ncbi 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
    ....
  78. ncbi 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...
  79. doi Comparative study of high-resolution multifrequency ultrasound of the plantar skin in patients with various types of hereditary palmoplantar keratoderma
    I Goldberg
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Dermatology 226:365-70. 2013
    ..This finding may help in the diagnosis of PC and in partially explaining plantar pain as part of PC symptomatology. © 2013 S. Karger AG, Basel. ..
  80. doi Determinants of micro-embolic signals in patients with atherosclerotic plaques of the internal carotid artery
    G Telman
    Department of Neurology, Rambam Health Care Campus, Haifa, Israel
    Eur J Vasc Endovasc Surg 38:143-7. 2009
    ....
  81. doi Glutathione S-transferase T1-null seems to be associated with graft failure in hematopoietic SCT
    R Elhasid
    Pediatric Hemato Oncology and Bone Marrow Transplant Department, Meyer Children s Hospital, Rambam Health Care Campus, 8 Ha liyah Strteet, Haifa, Israel
    Bone Marrow Transplant 45:1728-31. 2010
    ..Thus, it seems that detection of anti-GSTT1 antibodies in patients with a GSTT1-null genotype before transplantation may be predictive of graft rejection in the event of a GSTT1-positive donor...
  82. doi CEDNIK syndrome results from loss-of-function mutations in SNAP29
    D Fuchs-Telem
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Israel
    Br J Dermatol 164:610-6. 2011
    ..Decrease in SNAP29 expression was found to result in abnormal lamellar granule maturation leading to aberrant epidermal differentiation and ichthyosis...
  83. ncbi Stress in a case of SAPHO syndrome
    Yonit Wohl
    Department of Dermatology, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Israel
    Cutis 71:63-7. 2003
    ..We also review the etiology, pathogenesis, and treatment of SAPHO syndrome and emphasize the important differences between this syndrome and psoriatic arthritis...
  84. ncbi Familial cutaneous collagenomas resulting from a novel mutation in LEMD3
    D Hershkovitz
    Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
    Br J Dermatol 156:375-7. 2007
  85. ncbi Simultaneous recording of late and ultra-late pain evoked potentials in fibromyalgia
    M Granot
    Department of Neurology, Rambam Medical Center, and Technion Faculty of Medicine, Haifa, Israel
    Clin Neurophysiol 112:1881-7. 2001
    ..To characterize laser evoked potentials (LEP), pain psychophysics and local tissue response in fibromyalgia patients...
  86. ncbi Monogenic pigmentary skin disorders: genetics and pathophysiology
    Dov Hershkovitz
    Center for Translational Genetics, Rappaport Institute for Research in the Medical Sciences, Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    Isr Med Assoc J 10:713-7. 2008
    ..In the present review, we discuss normal skin pigmentation and the genetic underpinning of selected disorders of hypo- and hyperpigmentation...
  87. ncbi 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
    ....
  88. ncbi Distribution of CYP2C9 and VKORC1 risk alleles for warfarin sensitivity and resistance in the Israeli population
    Edna Efrati
    Center for Translational Genetics, B Rappaport Institute for Research in Medical Sciences, Faculty of Medicine, Technion Israel Institute of Technology and Rambam Health Care Campus, Haifa, Israel
    Curr Drug Saf 5:190-3. 2010
    ..This study was designed to delineate the relative frequency of CYP2C9 and VKORC1 polymorphisms known to affect warfarin response in the highly heterogeneous Israeli population...
  89. doi Influence of glutathione S-transferase A1, P1, M1, T1 polymorphisms on oral busulfan pharmacokinetics in children with congenital hemoglobinopathies undergoing hematopoietic stem cell transplantation
    Ronit Elhasid
    Pediatric Hemato Oncology and Bone Marrow Transplant Department, Meyer Children s Hospital, Rambam Health Care Campus, Haifa, Israel
    Pediatr Blood Cancer 55:1172-9. 2010
    ....
  90. ncbi 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...
  91. ncbi Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population
    Judeh Abu Sa'd
    Department of Life Sciences, Bethlehem University, Palestinian Authority, Haifa, Israel
    J Invest Dermatol 126:777-81. 2006
    ..Our data raise the possibility that similar differences may also be found in other genetically heterogeneous groups of disorders, and indicate the need for population-specific diagnostic and management approaches...
  92. doi 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
    ....
  93. ncbi Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata
    Gary S Chuang
    Department of Dermatology, Columbia University, New York, New York, USA
    J Am Acad Dermatol 52:410-6. 2005
    ..Collectively, identification of 5 novel and 3 recurrent mutations further supports the role of FH in the pathogenesis of MCL...
  94. ncbi A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin
    Stavit A Shalev
    The Genetic Institute, Ha Emek Medical Center, Afula, Israel
    Int Arch Allergy Immunol 143:190-3. 2007
    ....
  95. ncbi Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders
    Yaacov Frishberg
    Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel
    J Mol Med (Berl) 83:33-8. 2005
    ..The heterogeneous phenotypic expression of the identified splice site mutation implies the existence of inherited or epigenetic modifying factors of importance in the regulation of ppGalNAc-T3 activity...
  96. ncbi ABCA12 is the major harlequin ichthyosis gene
    Anna C Thomas
    Centre for Cutaneous Research, Institute of Cell and Molecular Science, Queen Mary s School of Medicine and Dentistry, Queen Mary, University of London, London, UK
    J Invest Dermatol 126:2408-13. 2006
    ..A combination of oligonucleotide arrays, multiplex PCR analysis and single-nucleotide polymorphism genotyping revealed a heterozygous intragenic deletion in exon 8. These mutation data establish ABCA12 as the major HI gene...
  97. ncbi Reply to ultrastructural study of the clinically uninvolved skin in familial tumoral calcinosis caused by mutations in GALNT3
    Reuven Bergman
    Am J Dermatopathol 28:372-3. 2006
  98. ncbi Identification of mutations in the human hairless gene in two new families with congenital atrichia
    Regina C Betz
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, Bonn, Germany
    Arch Dermatol Res 299:157-61. 2007
    ..Our study emphasizes the importance of sequencing the complete coding sequence and exon/intron junctions in the molecular diagnostics of AUC and APL...
  99. ncbi A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex
    Margarita Indelman
    J Invest Dermatol 124:272-4. 2005
  100. ncbi Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families
    Aoi Nakano
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA
    J Am Acad Dermatol 46:510-6. 2002
    ..This group of autosomal recessive diseases is especially prevalent in regions where consanguinity is common, such as the Middle East. However, the clinical and genetic epidemiology of JEB in this region remains largely unexplored...
  101. ncbi Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes
    Eli Sprecher
    Department of Dermatology and Cutaneous Biology and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 119:692-8. 2002
    ..In summary, our results substantially refine the Naegeli-Franceschetti-Jadassohn syndrome region and will aid in identifying a gene that is critical for ontogenesis of multiple ectodermal tissues...