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    191 results match your criteria Kindler Syndrome

    1 OF 4
    Kindler syndrome in a patient with colitis and primary sclerosing cholangitis: coincidence or association?
    Dermatol Online J 2018 Mar 15;24(3). Epub 2018 Mar 15.
    Centro Hospitalar Lisboa Norte EPE, Hospital de Santa Maria, Serviço de Dermatologia, Lisboa, Portugal.
    Kindler syndrome is a rare, autosomal recessive genodermatosis, caused by mutations in the FERMT1 gene. It is thought to be primarily a skin disease, but other organs may also be involved. We report a case of a novel mutation of FERMT1 gene in a patient with a probable new phenotype of Kindler syndrome, including colitis and primary sclerosing cholangitis. Read More
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    Ophthalmologic Approach in Epidermolysis Bullosa: A Cross-Sectional Study With Phenotype-Genotype Correlations.
    Cornea 2018 Apr;37(4):442-447
    Cornea Department, Fundación Oftalmológica Los Andes, Santiago, Chile.
    Purpose: This study describes ophthalmologic and systemic clinical findings in different subtypes of epidermolysis bullosa (EB) establishing genotype-phenotype correlations.

    Methods: A cross-sectional study was conducted in 58 patients with EB together with the Dystrophic Epidermolysis Bullosa Research Association, Chile. Data were stratified by major subtypes such as "simplex epidermolysis bullosa" (EBS), "junctional epidermolysis bullosa" (JEB), "recessive and dominant dystrophic epidermolysis bullosa" and "dominant dystrophic epidermolysis bullosa" (DDEB), and "Kindler syndrome" (KS). Read More
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    Genetic diagnosis of epidermolysis bullosa: recommendations from an expert Spanish research group.
    Actas Dermosifiliogr 2018 Mar 26;109(2):104-122. Epub 2017 Nov 26.
    Departamento de Bioingeniería, Universidad Carlos III de Madrid; Unidad de Medicina Regenerativa, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), IIS-Fundación Jiménez Díaz, CIBER de Enfermedades Raras (ISCIII) U714, Madrid, España. Electronic address:
    Epidermolysis bullosa (EB) is a rare genetic disease that causes mucocutaneous fragility. It comprises a clinically and genetically heterogeneous group of disorder characterized by spontaneous or contact/friction-induced blistering. EB is classified into 4 types-simplex, junctional, dystrophic, and Kindler syndrome-and 30 subtypes. Read More
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    [Epidermolysis bullosa in peru: clinical and epidemiological study of patients treated in a national reference pediatric hospital, 1993-2015].
    Rev Peru Med Exp Salud Publica 2017 Apr-Jun;34(2):201-208
    Instituto Nacional de Salud del Niño. Lima, Perú.
    Objectives: To describe the clinical and epidemiological characteristics of patients diagnosed with epidermolysis bullosa (EB) at the Instituto Nacional de Salud (INSN) in Lima, Peru; a National Reference Center for this disease.

    Materials And Methods: Observational, descriptive and transversal study. We reviewed the clinical histories and laboratory tests of patients diagnosed with EB treated in INSN from 1993 to 2015. Read More
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    [Detection of influenza A, B and subtypes A (H1N1) pdm09, A (H3N2) viruses by multiple qrt-pcr in clinical samples].
    Rev Peru Med Exp Salud Publica 2017 Apr-Jun;34(2):192-200
    Laboratorio de Referencia Nacional de Biología Molecular y Biotecnología, Centro Nacional de Salud Pública, Instituto Nacional de Salud. Lima, Perú.
    Objectives.: To describe the clinical and epidemiological characteristics of patients diagnosed with epidermolysis bullosa (EB) at the Instituto Nacional de Salud (INSN) in Lima, Peru; a National Reference Center for this disease.

    Material And Methods: . Read More
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    Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree.
    Turk J Pediatr 2017 ;59(1):56-61
    Departments of Dermatology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey.
    Talo-Yıldırım T, Acun-Kaya F, Taşkesen M, Dündar S, Bozoğlan A, Tekin GG, Akdeniz S. Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree. Turk J Pediatr 2017; 59: 56-61. Read More
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    Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.
    Matrix Biol 2018 Mar 11;66:22-33. Epub 2017 Nov 11.
    Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:
    Epidermolysis bullosa (EB) is caused by mutations in as many as 19 distinct genes. We have developed a next-generation sequencing (NGS) panel targeting genes known to be mutated in skin fragility disorders, including tetraspanin CD151 expressed in keratinocytes at the dermal-epidermal junction. The NGS panel was applied to a cohort of 92 consanguineous families of unknown subtype of EB. Read More
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    Breast cancer in a patient with Kindlers syndrome.
    J Pak Med Assoc 2017 Aug;67(8):1283-1286
    Department of Pathology, The Royal Hospital, Muscat, Sultanate of Oman..
    Breast Cancer (BC) has associated risk factors and genetic factors like BRCA1, and BRCA2. Many benign and malignant disease processes are found concurrently with BC and believed to be additional risk factors like gall bladder stones (cholelithiasis), hypertension, diabetes mellitus, cerebrovascular lesions, arthritis, spine and spinal cord degenerative lesions, infertility, depression, sleep disturbances, obesity, autoimmune diseases (SLE), and thyroid diseases. There are some malignant disease associations like synchronous or metachronous ovarian, colonic and endometrial tumours with Breast cancer. Read More
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    Structural basis of kindlin-mediated integrin recognition and activation.
    Proc Natl Acad Sci U S A 2017 Aug 24;114(35):9349-9354. Epub 2017 Jul 24.
    Department of Biology, Southern University of Science and Technology, Shenzhen 518055, China;
    Kindlins and talins are integrin-binding proteins that are critically involved in integrin activation, an essential process for many fundamental cellular activities including cell-matrix adhesion, migration, and proliferation. As FERM-domain-containing proteins, talins and kindlins, respectively, bind different regions of β-integrin cytoplasmic tails. However, compared with the extensively studied talin, little is known about how kindlins specifically interact with integrins and synergistically enhance their activation by talins. Read More
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    Focal adhesions in the skin: lessons learned from skin fragility disorders.
    Eur J Dermatol 2017 Jun;27(S1):8-11
    Department of Dermatology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
    Focal adhesions are large multiprotein cell-matrix adhesion complexes, which regulate multiple cellular functions, such as adhesion and migration. Their biological significance in skin is underscored by two genetic disorders, the Kindler syndrome and the interstitial lung disease, nephrotic syndrome and epidermolysis bullosa, in which mutations affect focal adhesion proteins, kindlin-1 and the integrin α3 subunit, respectively. Here we provide an overview of what we learned from the study of the molecular mechanisms of these diseases. Read More
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    Raising Awareness Among Healthcare Providers about Epidermolysis Bullosa and Advancing Toward a Cure.
    J Clin Aesthet Dermatol 2017 May 1;10(5):36-48. Epub 2017 May 1.
    GenArmor, Winston-Salem, North Carolina.
    Epidermolysis bullosa (EB) is an orphan disease that affects about half a million people worldwide, but may not be familiar to all clinicians. The authors' goal was to present a short description of this condition and current research in the form of a narrative review. The authors reviewed the literature on epidermolysis bullosa in order to describe the condition and current genetic research. Read More
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    Kindler syndrome complicated by invasive squamous cell carcinoma of the palate.
    Eur Ann Otorhinolaryngol Head Neck Dis 2018 Feb 20;135(1):59-61. Epub 2017 Jun 20.
    Service d'otorhinolaryngologie et de chirurgie cervico-faciale, hôpital 20 aout 1953, CHU Ibn Rochd, Casablanca, Morocco.
    Introduction: Kindler syndrome is a very rare, autosomal recessive genodermatosis characterized by skin fragility and photosensitivity in infancy with progressive poikiloderma.

    Case Report: We report the case of a young woman with a history of Kindler syndrome predominantly characterized by extensive involvement of the oropharyngeal mucosa. The patient presented with an ulcerative lesion of the palate. Read More
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    Kindlin-1 protects cells from oxidative damage through activation of ERK signalling.
    Free Radic Biol Med 2017 Jul 10;108:896-903. Epub 2017 May 10.
    Edinburgh Cancer Research UK Centre, Institute of Genetics & Molecular Medicine, University of Edinburgh, Crewe Road South, Edinburgh EH4 2XR, UK. Electronic address:
    Kindlin-1 is a FERM domain containing adaptor protein that is found predominantly at cell-extracellular matrix adhesions where it binds to β-integrin subunits and is required for integrin activation. Loss of function mutations in the FERMT1 gene which encodes Kindlin-1 leads to the development of Kindler Syndrome (KS) an autosomal recessive skin disorder characterized by skin blistering, photosensitivity, and predisposition to aggressive squamous cell carcinoma (SCC). Here we show that loss of Kindlin-1 sensitizes both SCC cells and keratinocytes to oxidative stress: Kindlin-1 deficient cells have higher levels of reactive oxygen species, decreased viability and increased DNA damage after treatment with either hydrogen peroxide (HO) or irradiation with UVA. Read More
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    Cardiomyopathy in Patients With Hereditary Bullous Epidermolysis.
    Actas Dermosifiliogr 2017 Jul - Aug;108(6):544-549. Epub 2017 Mar 30.
    Servicio de Dermatología, Hospital Sant Joan de Déu, Barcelona, España.
    Introduction And Objective: In recent decades, an association has been reported between epidermolysis bullosa (EB) and dilated cardiomyopathy (DC). DC is typically in an advanced phase when detected, leading to a poorer prognosis. Our objective was to determine the prevalence of DC in patients with EB seen in Hospital San Joan de Déu in Barcelona, Spain, between May 1986 and April 2015. Read More
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    [Hereditary epidermolysis bullosa: French national guidelines (PNDS) for diagnosis and treatment].
    Ann Dermatol Venereol 2017 Jan 5;144(1):6-35. Epub 2016 Dec 5.
    Service de dermatologie, centre de référence des épidermolyses bulleuses héréditaires, hôpital l'Archet 2, CHU de Nice, 151, route Saint-Antoine-de-Ginestière, CS 23079, 06202 Nice cedex 3, France. Electronic address:
    Hereditary epidermolysis bullosa (EB) is a heterogeneous group of rare genetic diseases characterized by fragile skin and/or mucous membrane, and it may be either local or generalized. It is caused by mutations in genes encoding different proteins involved mainly in the structure and function of the dermal-epidermal junction. Nineteen genes have so far been identified. Read More
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    UV-B-induced cutaneous inflammation and prospects for antioxidant treatment in Kindler syndrome.
    Hum Mol Genet 2016 12;25(24):5339-5352
    Department of Dermatology, Medical Center - University of Freiburg, Freiburg, Germany.
    Kindler syndrome (KS), a rare, autosomal recessive disorder comprises mechanical skin fragility and photosensitivity, which manifest early in life. The progression of the disorder is irreversible and results in tissue damage in form of cutaneous and mucosal atrophy and scarring and epithelial cancers. Here, we unravel molecular mechanisms of increased UV-B sensitivity of keratinocytes derived from KS patients. Read More
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    Kindlin-1 Regulates Keratinocyte Electrotaxis.
    J Invest Dermatol 2016 Nov 15;136(11):2229-2239. Epub 2016 Jul 15.
    Department of Dermatology, No. 1 Hospital of China Medical University, Shenyang, China; School of Dentistry, College of Biomedical and Life Sciences, Cardiff University, Cardiff, UK. Electronic address:
    Kindler syndrome (KS) is an autosomal recessive blistering skin disease resulting from pathogenic mutations in FERMT1. This gene encodes kindlin-1, a focal adhesion protein involved in activation of the integrin family of extracellular matrix receptors. Most cases of KS show a marked reduction or complete absence of the kindlin-1 protein in keratinocytes, resulting in defective cell adhesion and migration. Read More
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    KIND1 Loss Sensitizes Keratinocytes to UV-Induced Inflammatory Response and DNA Damage.
    J Invest Dermatol 2017 Feb 7;137(2):475-483. Epub 2016 Oct 7.
    Department of Dermatology, Duke University Medical Center, Durham, North Carolina, USA. Electronic address:
    Loss of function of KIND1, a cytoskeletal protein involved in β1-integrin function, causes Kindler syndrome, a genetic disease characterized by skin fragility, photosensitivity, and increased risk of squamous cell carcinoma. Dysregulation of β1-integrin underlies Kindler syndrome skin fragility. However, the mechanisms underlying squamous cell carcinoma susceptibility are unclear. Read More
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    A Kindler syndrome-associated squamous cell carcinoma treated with radiotherapy.
    Rep Pract Oncol Radiother 2016 Nov-Dec;21(6):532-6. Epub 2016 Sep 10.
    Institute of Cancer, Hospital Mãe de Deus, Orfanotrofio Str, 299, 90840-440 Porto Alegre, Brazil.
    Kindler syndrome1, 2 is a genetic disorder mainly characterized by increased skin fragility and photosensitivity,3, 4 making the use of treatments based on radiation difficult or even prohibited. Thus, cases reporting Kindler syndrome patients treated with radiotherapy are rare. In this study, we report clinical outcomes and care provided for a rare case of a Kindler syndrome patient submitted to radiotherapy. Read More
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    Kindler syndrome: the case of two Iranian sisters.
    G Ital Dermatol Venereol 2018 Feb 8;153(1):111-114. Epub 2016 Jul 8.
    Islamic Azad University, Ashkzar Branch, Ashkzar, Yazd, Iran.
    Kindler syndrome is a rare autosomal recessive condition, characterized by multiple skin and mucosal abnormalities. Among the latter, esophageal involvement is an infrequent manifestation which may be completely asymptomatic or complicated by dysphagia. We report the case of two sisters presenting with cutaneous features and severe dysphagia. Read More
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    A Novel Nonsense Mutation in Exon 5 of KIND1 Gene in an Iranian Family with Kindler Syndrome.
    Arch Iran Med 2016 Jun;19(6):403-8
    Department of Biology, Faculty of Science, Yazd University, Yazd, Iran.
    Background: Kindler syndrome (KS) is an autosomal recessive skin disease characterized by actual blistering, photosensitivity and a progressive poikiloderma. The disorder results from rare mutations in the KIND1 gene. This gene contains 15 exons and expresses two kindlin-1 isoforms. Read More
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    Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).
    Turk J Pediatr 2015 Jul-Aug;57(4):385-387
    Division of Neonatology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
    Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal- epidermal basement membrane zone. There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome. Read More
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    Kindlin1 regulates microtubule function to ensure normal mitosis.
    J Mol Cell Biol 2016 Aug 18;8(4):338-48. Epub 2016 Mar 18.
    Edinburgh Cancer Research Centre, Institute of Genetics & Molecular Medicine, University of Edinburgh, Crewe Road South, Edinburgh EH4 2XR, UK
    Loss of Kindlin 1 (Kin1) results in the skin blistering disorder Kindler Syndrome (KS), whose symptoms also include skin atrophy and reduced keratinocyte proliferation. Kin1 binds to integrins to modulate their activation and more recently it has been shown to regulate mitotic spindles and cell survival in a Plk1-dependent manner. Here we report that short-term Kin1 deletion in mouse skin results in impaired mitosis, which is associated with reduced acetylated tubulin (ac-tub) levels and cell proliferation. Read More
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    Ocular manifestations of genetic skin disorders.
    Clin Dermatol 2016 Mar-Apr;34(2):242-75. Epub 2015 Dec 2.
    The Vision Center, Children's Hospital Los Angeles; Department of Ophthalmology, Keck School of Medicine, University of Southern California, 4650 Sunset Blvd, MS #88, Los Angeles, CA, 90027.
    Genetic skin diseases, or genodermatoses, often have extracutaneous manifestations. Ocular manifestations in particular can have significant clinical implications, like blindness. Other manifestations, such as the corneal opacities that occur in X-linked ichthyosis, are asymptomatic but characteristic of a particular genodermatosis. Read More
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    Single Amino Acid Deletion in Kindlin-1 Results in Partial Protein Degradation Which Can Be Rescued by Chaperone Treatment.
    J Invest Dermatol 2016 05 28;136(5):920-9. Epub 2016 Jan 28.
    Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany. Electronic address:
    Kindler syndrome, a distinct type of epidermolysis bullosa, is a rare disorder caused by mutations in FERMT1, encoding kindlin-1. Most FERMT1 mutations lead to premature termination codons and absence of kindlin-1. Here we investigated the molecular and cellular consequences of a naturally occurring FERMT1 mutation, c. Read More
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    Oral manifestations in Kindler syndrome: case report and discussion of literature findings.
    Spec Care Dentist 2016 Jul 27;36(4):223-30. Epub 2016 Jan 27.
    Professor, Oral Medicine Department, Federal University of Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
    Kindler syndrome is a rare genetic disorder showing some predominant clinical manifestations, for example, trauma-induced blisters, progressive poikiloderma, skin atrophy, and photosensitivity. Oral manifestations are not commonly described and can be often misdiagnosed. This report describes the case of a female patient diagnosed with Kindler syndrome showing the classical clinical features affecting the skin, in addition to oral lesions manifesting as keratotic plaques and ulcers affecting the buccal mucosa, floor of the mouth, alveolar ridge, hard palate, and soft palate. Read More
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    The kindlin family: functions, signaling properties and implications for human disease.
    J Cell Sci 2016 Jan;129(1):17-27
    Max Planck Institute of Biochemistry, Martinsried 82152, Germany
    The kindlin (or fermitin) family of proteins comprises three members (kindlin-1,-2 and -3) of evolutionarily conserved focal adhesion (FA) proteins, whose best-known task is to increase integrin affinity for a ligand (also referred as integrin activation) through binding of β-integrin tails. The consequence of kindlin-mediated integrin activation and integrin-ligand binding is cell adhesion, spreading and migration, assembly of the extracellular matrix (ECM), cell survival, proliferation and differentiation. Another hallmark of kindlins is their involvement in disease. Read More
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    Recently Identified Forms of Epidermolysis Bullosa.
    Ann Dermatol 2015 Dec 7;27(6):658-66. Epub 2015 Dec 7.
    St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
    Epidermolysis bullosa (EB) comprises a collection of clinically diverse inherited blistering diseases that affect the skin and, in some subtypes, mucous membranes and other organs. Currently classified into four main subtypes (EB simplex, junctional EB, dystrophic EB, and Kindler syndrome, mainly based on the level of skin cleavage), the spectrum of EB extends to more than 30 clinical subtypes with pathogenic mutations in at least 18 distinct genes. This review focuses on three recent additions to variants of EB: all are autosomal recessive, and result from mutations in either DST-e (coding for epidermal dystonin, also known as the 230 kDa bullous pemphigoid antigen, BP230), EXPH5 (coding for exophilin-5, also known as Slac2-b), or ITGA3 (coding for the integrin alpha-3 subunit). Read More
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    Nailfold capillaroscopic changes in Kindler syndrome.
    Intractable Rare Dis Res 2015 Nov;4(4):214-6
    Department of Dermatology and Venereology, Medical University, Plovdiv, Bulgaria.
    Kindler syndrome (KS), the fourth major type of hereditary epidermolysis bullosa (HEB), is a rare, autosomal recessive disorder characterized by skin fragility and blistering at birth followed by development of marked photosensitivity and progressive poikilodermatous skin changes in later years. We reported here the case of a 54-year-old woman, who fulfills the diagnostic criteria of KS type of HEB, putting accent on the nailfold capillaroscopic changes. Using videocapillaroscopy we observed pronounced alterations in finger nail capillaries including reduction in capillary density, features of neoangiogenesis (architectural derangement, elongated loops, extremely tortuous, bushy or branching capillaries, thin, branching and interconnected capillaries), enlarged and giant capillaries. Read More
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    A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome.
    J Zhejiang Univ Sci B 2015 Nov;16(11):957-62
    Capital Institute of Pediatrics, Beijing 100020, China.
    Kindler syndrome (KS; OMIM 173650) is a rare autosomal recessive skin disorder, which results in symptoms including blistering, epidermal atrophy, increased risk of cancer, and poor wound healing. The majority of mutations of the disease-determining gene (FERMT1 gene) are single nucleotide substitutions, including missense mutations, nonsense mutations, etc. Large deletion mutations are seldom reported. Read More
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    Kindler syndrome with palmoplantar hyperhidrosis and blonde hair.
    Indian Dermatol Online J 2015 Sep-Oct;6(5):330-2
    Department of Dermatology, Venereology and Leprology, Sawai Man Singh Medical College, Jaipur, Rajasthan, India.
    Kindler syndrome (KS) is a very rare genodermatosis characterized by acral blistering starting in infancy along with photosensitivity, progressive poikiloderma, cutaneous atrophy, and a variable degree of mucosal involvement. A large number of other cutaneous and extracutaneous features have been described, which aid in diagnosing it. Generally KS has been found to be associated with hypohidrosis/anhidrosis. Read More
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    Is adermatoglyphia an additional feature of Kindler Syndrome?
    An Bras Dermatol 2015 Jul-Aug;90(4):592-3
    Research Laboratories, St John's Institute of Dermatology, London, GB.
    A typical feature of Kindler Syndrome is skin fragility; this condition in currently classified as a form of epidermolysis bullosa. We describe a rarely reported feature of two cases, one sporadic and one familial; both patients noticed acquired adermatoglyphia. The loss of dermatoglyphics could be an additional feature of this syndrome. Read More
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    Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran.
    Int J Dermatol 2015 Oct 28;54(10):e416-23. Epub 2015 Jul 28.
    Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Background: Immunofluorescence antigen mapping (IFM), is a newly introduced technique for diagnosis and classification of epidermolysis bullosa (EB) disease. The precise level of skin cleavage can be determined using monoclonal antibodies to EB-specific basement membrane zone protein.

    Objective: To apply IFM technique in diagnosis and classification of EB and to identify utility and limitation of this method in our clinical setting. Read More
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    The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
    J Invest Dermatol 2015 May 19;135(5):1447-1450. Epub 2015 Jan 19.
    Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:
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    Kindler syndrome protein Kindlin-1 is mainly expressed in adult tissues originating from ectoderm/endoderm.
    Sci China Life Sci 2015 May 15;58(5):432-41. Epub 2015 Jan 15.
    Key Laboratory of Carcinogenesis and Translational Research, Ministry of Education, State Key Laboratory of Natural and Biomimetic Drugs, Peking University Health Science Center, Beijing, 100191, China.
    Mutations of integrin-interacting protein Kindlin-1 cause Kindler syndrome and deregulation of Kindlin-1 is implicated in human cancers. The Kindlin-1-related diseases are confined in limited tissue types. However, Kindlin-1 tissue distribution and the dogma that governs Kindlin-1 expression in normal human body are elusive. Read More
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    Oxidative stress and mitochondrial dysfunction in Kindler syndrome.
    Orphanet J Rare Dis 2014 Dec 21;9:211. Epub 2014 Dec 21.
    Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Valencia, Spain.
    Background: Kindler Syndrome (KS) is an autosomal recessive skin disorder characterized by skin blistering, photosensitivity, premature aging, and propensity to skin cancer. In spite of the knowledge underlying cause of this disease involving mutations of FERMT1 (fermitin family member 1), and efforts to characterize genotype-phenotype correlations, the clinical variability of this genodermatosis is still poorly understood. In addition, several pathognomonic features of KS, not related to skin fragility such as aging, inflammation and cancer predisposition have been strongly associated with oxidative stress. Read More
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    Kindler syndrome with severe mucosal involvement in a large Palestinian pedigree.
    Eur J Dermatol 2015 Jan-Feb;25(1):14-9
    Dermatology Section, Shifa Hospital, Shifa Street, Gaza, Gaza Strip.
    Background: Kindler syndrome (KS) is a rare autosomal recessive disease of skin fragility, photosensitivity and progressive poikiloderma. Mucous membranes may also be involved. KS is caused by mutations in the FERMT1 gene encoding kindlin-1. Read More
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    Kindler's syndrome: a report of five cases in a family.
    J Coll Physicians Surg Pak 2014 Oct;24(10):763-5
    Department of Dermatology, PNS Shifa, Karachi.
    Kindler's Syndrome (KS) is a rare genodermatosis with autosomal recessive mode of inheritance. The disease results from homozygous mutations on both alleles of the FERMT-1 gene (also known as KIND-1 gene) that encodes the protein Kindlin-1 (kindlerin). Clinical features include a constellation of early infantile skin blistering and mild photosensitivity, which improves with age, and progressive poikiloderma with widespread cutaneous atrophy. Read More
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