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Article ; 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 Volume 11, Issue 1, Page(s) 8237

Language	English
Publishing date	2021-04-09
Publishing country	England
Document type	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
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; 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 Volume 11, Issue 1, Page(s) 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 term(s)	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
Chemical Substances	Adrenergic beta-Antagonists ; Biomarkers ; Co-Repressor Proteins ; Latanoprost (6Z5B6HVF6O) ; Timolol (817W3C6175)
Language	English
Publishing date	2021-01-15
Publishing country	England
Document type	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
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Article ; Online: Publisher Correction

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

Scientific Reports, Vol 11, Iss 1, Pp 1-

MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

2021 Volume 1

Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

Abstract	An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Keywords	Medicine ; R ; Science ; Q
Language	English
Publishing date	2021-04-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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

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

Scientific Reports, Vol 11, Iss 1, Pp 1-

2021 Volume 9

Abstract: 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 ... ...

Abstract	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.
Keywords	Medicine ; R ; Science ; Q
Subject code	610
Language	English
Publishing date	2021-01-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; 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 Volume 42, Issue 2, Page(s) 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 term(s)	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
Chemical Substances	Myelin P0 Protein
Language	English
Publishing date	2010-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	438353-9
ISSN	1097-4598 ; 0148-639X
ISSN (online)	1097-4598
ISSN	0148-639X
DOI	10.1002/mus.21643
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Zs.A 1449: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; 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 Volume 45, Issue 1, Page(s) 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 term(s)	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
Chemical Substances	Myelin Proteins ; PMP22 protein, human
Language	English
Publishing date	2012-01
Publishing country	United States
Document type	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
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Article: 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 Volume 57, Issue 4, Page(s) 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 term(s)	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
Chemical Substances	ATXN8OS gene product, human ; Iron-Binding Proteins ; Nerve Tissue Proteins ; RNA, Long Noncoding ; RNA, Untranslated
Language	English
Publishing date	2005-03-23
Publishing country	United States
Document type	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
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Article ; 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 Volume 2009, Page(s) 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 term(s)	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
Language	English
Publishing date	2009-10-08
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2052552-7
ISSN	1110-7251 ; 1110-7243
ISSN (online)	1110-7251
ISSN	1110-7243
DOI	10.1155/2009/985415
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Article ; Online: Diagnosis of Charcot-Marie-Tooth Disease

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

Journal of Biomedicine and Biotechnology, Vol

2009 Volume 2009

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.
Keywords	Biotechnology ; TP248.13-248.65 ; Medicine ; R
Subject code	610
Language	English
Publishing date	2009-01-01T00:00:00Z
Publisher	Hindawi Limited
Document type	Article ; Online
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Article ; 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 Volume 280, Issue 1-2, Page(s) 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 term(s)	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
Chemical Substances	CACNA1A protein, human ; Calcium Channels ; Calcium (SY7Q814VUP)
Language	English
Publishing date	2009-05-15
Publishing country	Netherlands
Document type	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
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