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  1. Artikel ; Online: Publisher Correction: MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension.

    Canut, María I / Villa, Olaya / Kudsieh, Bachar / Mattlin, Heidi / Banchs, Isabel / González, Juan R / Armengol, Lluís / Casaroli-Marano, Ricardo P

    Scientific reports

    2021  Band 11, Heft 1, Seite(n) 8237

    Sprache Englisch
    Erscheinungsdatum 2021-04-09
    Erscheinungsland England
    Dokumenttyp Published Erratum
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-021-87653-6
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension.

    Canut, María I / Villa, Olaya / Kudsieh, Bachar / Mattlin, Heidi / Banchs, Isabel / González, Juan R / Armengol, Lluís / Casaroli-Marano, Ricardo P

    Scientific reports

    2021  Band 11, Heft 1, Seite(n) 1583

    Abstract: Predicting the therapeutic response to ocular hypotensive drugs is crucial for the clinical treatment and management of glaucoma. Our aim was to identify a possible genetic contribution to the response to current pharmacological treatments of choice in a ...

    Abstract Predicting the therapeutic response to ocular hypotensive drugs is crucial for the clinical treatment and management of glaucoma. Our aim was to identify a possible genetic contribution to the response to current pharmacological treatments of choice in a white Mediterranean population with primary open-angle glaucoma (POAG) or ocular hypertension (OH). We conducted a prospective, controlled, randomized, partial crossover study that included 151 patients of both genders, aged 18 years and older, diagnosed with and requiring pharmacological treatment for POAG or OH in one or both eyes. We sought to identify copy number variants (CNVs) associated with differences in pharmacological response, using a DNA pooling strategy of carefully phenotyped treatment responders and non-responders, treated for a minimum of 6 weeks with a beta-blocker (timolol maleate) and/or prostaglandin analog (latanoprost). Diurnal intraocular pressure reduction and comparative genome wide CNVs were analyzed. Our finding that copy number alleles of an intronic portion of the MLIP gene is a predictor of pharmacological response to beta blockers and prostaglandin analogs could be used as a biomarker to guide first-tier POAG and OH treatment. Our finding improves understanding of the genetic factors modulating pharmacological response in POAG and OH, and represents an important contribution to the establishment of a personalized approach to the treatment of glaucoma.
    Mesh-Begriff(e) Adrenergic beta-Antagonists/pharmacology ; Adrenergic beta-Antagonists/therapeutic use ; Adult ; Aged ; Alleles ; Biomarkers/metabolism ; Co-Repressor Proteins/genetics ; Cross-Over Studies ; DNA Copy Number Variations ; Female ; Genome-Wide Association Study ; Genotype ; Glaucoma, Open-Angle/drug therapy ; Glaucoma, Open-Angle/genetics ; Glaucoma, Open-Angle/pathology ; Humans ; Intraocular Pressure/drug effects ; Latanoprost/pharmacology ; Latanoprost/therapeutic use ; Male ; Middle Aged ; Ocular Hypertension/drug therapy ; Ocular Hypertension/genetics ; Ocular Hypertension/pathology ; Prospective Studies ; Timolol/pharmacology ; Timolol/therapeutic use
    Chemische Substanzen Adrenergic beta-Antagonists ; Biomarkers ; Co-Repressor Proteins ; Latanoprost (6Z5B6HVF6O) ; Timolol (817W3C6175)
    Sprache Englisch
    Erscheinungsdatum 2021-01-15
    Erscheinungsland England
    Dokumenttyp Journal Article ; Randomized Controlled Trial ; Research Support, Non-U.S. Gov't
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-020-80954-2
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene.

    Banchs, Isabel / Casasnovas, Carlos / Montero, Jordi / Volpini, Victor / Martínez-Matos, Juan Antonio

    Muscle & nerve

    2010  Band 42, Heft 2, Seite(n) 184–188

    Abstract: Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (MPZ) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2 (less ... ...

    Abstract Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (MPZ) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2 (less frequent and with unaffected conduction velocities), and CMTID (with intermediate conduction velocities). We report a study of seven patients from a four-generation family. All the affected members of the family had a typical CMT phenotype, but three of them had calf hypertrophy. The nerve conduction velocities (NCV) in all of them were between 35 and 43 m/s. Molecular study revealed the novel mutation Lys214Met in the MPZ gene. Molecular study of the MPZ gene would be useful in cases of CMT in families with intermediate NCV, especially if no mutations in the GJB-1 gene are found or there is male-to-male transmission.
    Mesh-Begriff(e) Adult ; Aged ; Charcot-Marie-Tooth Disease/genetics ; Child, Preschool ; Electrodiagnosis ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Myelin P0 Protein/genetics ; Neural Conduction/genetics ; Pedigree ; Phenotype
    Chemische Substanzen Myelin P0 Protein
    Sprache Englisch
    Erscheinungsdatum 2010-08
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 438353-9
    ISSN 1097-4598 ; 0148-639X
    ISSN (online) 1097-4598
    ISSN 0148-639X
    DOI 10.1002/mus.21643
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype.

    Casasnovas, Carlos / Banchs, Isabel / De Jorge, Laura / Antónia Albertí, Maria / Martínez-Campo, Yolanda / Povedano, Mónica / Montero, Jordi / Volpini, Victor

    Muscle & nerve

    2012  Band 45, Heft 1, Seite(n) 135–138

    Abstract: Introduction: In this study we examined a family with electrophysiological findings of hereditary neuropathy with liability to pressure palsies (HNPP) and a mild clinical presentation.: Methods: Four members of a family were referred for diagnosis of ...

    Abstract Introduction: In this study we examined a family with electrophysiological findings of hereditary neuropathy with liability to pressure palsies (HNPP) and a mild clinical presentation.
    Methods: Four members of a family were referred for diagnosis of HNPP. Electrophysiological studies included motor and sensory nerve conduction studies in the upper and lower extremities. Investigations of microsatellites, using polymorphic repeat markers flanking the gene, and multiplex ligation-dependent probe amplification (MLPA) were performed for molecular studies.
    Results: The initial study of microsatellites did not detect any change, but MLPA demonstrated a small deletion of exon 5 in the PMP22 gene.
    Conclusion: Our findings demonstrate the important role of small deletions in the PMP22 gene in the etiology of HNPP with a normal microsatellite study.
    Mesh-Begriff(e) Adult ; Chromosomes, Human, Pair 17 ; Humans ; Male ; Middle Aged ; Myelin Proteins/genetics ; Neural Conduction/genetics ; Paralysis/complications ; Paralysis/genetics ; Polyneuropathies/complications ; Polyneuropathies/genetics ; Sequence Deletion/genetics
    Chemische Substanzen Myelin Proteins ; PMP22 protein, human
    Sprache Englisch
    Erscheinungsdatum 2012-01
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 438353-9
    ISSN 1097-4598 ; 0148-639X
    ISSN (online) 1097-4598
    ISSN 0148-639X
    DOI 10.1002/mus.22201
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: Diagnosis of Charcot-Marie-Tooth disease.

    Banchs, Isabel / Casasnovas, Carlos / Albertí, Antonia / De Jorge, Laura / Povedano, Mónica / Montero, Jordi / Martínez-Matos, Juan Antonio / Volpini, Victor

    Journal of biomedicine & biotechnology

    2009  Band 2009, Seite(n) 985415

    Abstract: Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of ... ...

    Abstract Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission. In the majority of cases, CMT first appears in infancy, and its manifestations include clumsiness of gait, predominantly distal muscular atrophy of the limbs, and deformity of the feet in the form of foot drop. It can be classified according to the pattern of transmission (autosomal dominant, autosomal recessive, or X linked), according to electrophysiological findings (demyelinating or axonal), or according to the causative mutant gene. The classification of CMT is complex and undergoes constant revision as new genes and mutations are discovered. In this paper, we review the most efficient diagnostic algorithms for the molecular diagnosis of CMT, which are based on clinical and electrophysiological data.
    Mesh-Begriff(e) Animals ; Charcot-Marie-Tooth Disease/classification ; Charcot-Marie-Tooth Disease/diagnosis ; Charcot-Marie-Tooth Disease/epidemiology ; Charcot-Marie-Tooth Disease/genetics ; Chromosome Mapping ; Electrophysiology/methods ; Gene Expression Profiling ; Humans ; Mice ; Nervous System Diseases/diagnosis ; Peripheral Nerves/pathology ; Prevalence
    Sprache Englisch
    Erscheinungsdatum 2009-10-08
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Review
    ZDB-ID 2052552-7
    ISSN 1110-7251 ; 1110-7243
    ISSN (online) 1110-7251
    ISSN 1110-7243
    DOI 10.1155/2009/985415
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel: Giant SCA8 alleles in nine children whose mother has two moderately large ones.

    Corral, Jordi / Genís, David / Banchs, Isabel / San Nicolás, Hector / Armstrong, Judith / Volpini, Víctor

    Annals of neurology

    2005  Band 57, Heft 4, Seite(n) 549–553

    Abstract: We report here a family in which each of nine children has inherited giant SCA8 CTG expansions from a homozygous mother who has two moderately large SCA8 CTG alleles. In contrast, three homozygous male individuals and a case of coexistence of two ... ...

    Abstract We report here a family in which each of nine children has inherited giant SCA8 CTG expansions from a homozygous mother who has two moderately large SCA8 CTG alleles. In contrast, three homozygous male individuals and a case of coexistence of two expansions of the FRDA gene and one of SCA8, all of them with moderately large alleles, have transmitted their respective SCA8 expanded alleles with minor changes, as usually occurs in heterozygous male transmissions.
    Mesh-Begriff(e) Adult ; Alleles ; Blotting, Southern ; Female ; Gene Frequency/genetics ; Humans ; Iron-Binding Proteins/genetics ; Male ; Middle Aged ; Nerve Tissue Proteins/genetics ; Pedigree ; Penetrance ; Polymerase Chain Reaction ; RNA, Long Noncoding ; RNA, Untranslated ; Spinocerebellar Degenerations/genetics ; Trinucleotide Repeat Expansion ; Frataxin
    Chemische Substanzen ATXN8OS gene product, human ; Iron-Binding Proteins ; Nerve Tissue Proteins ; RNA, Long Noncoding ; RNA, Untranslated
    Sprache Englisch
    Erscheinungsdatum 2005-03-23
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80362-5
    ISSN 1531-8249 ; 0364-5134
    ISSN (online) 1531-8249
    ISSN 0364-5134
    DOI 10.1002/ana.20421
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  7. Artikel ; Online: Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.

    Cuenca-León, Ester / Banchs, Isabel / Serra, Selma A / Latorre, Pilar / Fernàndez-Castillo, Noèlia / Corominas, Roser / Valverde, Miguel A / Volpini, Víctor / Fernández-Fernández, José M / Macaya, Alfons / Cormand, Bru

    Journal of the neurological sciences

    2009  Band 280, Heft 1-2, Seite(n) 10–14

    Abstract: We report a patient with typical features of episodic ataxia type 2 (EA2) but with onset in the sixth decade and associated interictal hand dystonia. He was found to bear the novel heterozygous missense mutation p.Gly638Asp (c.1913G>A) in the CACNA1A ... ...

    Abstract We report a patient with typical features of episodic ataxia type 2 (EA2) but with onset in the sixth decade and associated interictal hand dystonia. He was found to bear the novel heterozygous missense mutation p.Gly638Asp (c.1913G>A) in the CACNA1A gene. Functional analysis of the mutation on P/Q channels expressed in HEK 293 cells revealed a reduction of Ca(2+) current densities, a left-shift in the apparent reversal potential, the slowing of inactivation kinetics and the increase in the rate of current recovery from inactivation. These results are consistent with a decrease in Ca(2+) permeability through mutant P/Q channels. To our knowledge, this is just the second patient with late onset EA2 linked to a CACNA1A mutation and the first to carry a loss-of-function missense mutation.
    Mesh-Begriff(e) Age of Onset ; Amino Acid Sequence ; Ataxia/complications ; Ataxia/genetics ; Calcium/metabolism ; Calcium Channels/genetics ; Calcium Channels/metabolism ; Cell Line ; Conserved Sequence ; DNA Mutational Analysis ; Dystonia/complications ; Dystonia/genetics ; Humans ; Kinetics ; Male ; Membrane Potentials/physiology ; Middle Aged ; Molecular Sequence Data ; Mutation, Missense ; Patch-Clamp Techniques
    Chemische Substanzen CACNA1A protein, human ; Calcium Channels ; Calcium (SY7Q814VUP)
    Sprache Englisch
    Erscheinungsdatum 2009-05-15
    Erscheinungsland Netherlands
    Dokumenttyp Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80160-4
    ISSN 1878-5883 ; 0022-510X ; 0374-8642
    ISSN (online) 1878-5883
    ISSN 0022-510X ; 0374-8642
    DOI 10.1016/j.jns.2009.01.005
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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