LIVIVO - Search results -

Search results

Result 1 - 10 of total 12

Search options

Article ; Online: Variants in the NPC1 Gene in Egyptian Patients with Niemann-Pick Type C

Mona L. Essawi / Asmaa F. Abdel-aleem / Mohamed A. Badawy / Maha S. Zaki / Magda F. Mohamed / Heba A. Hassan / Ekram M. Fateen

Open Access Macedonian Journal of Medical Sciences, Vol 8, Iss A (2020)

2020

Abstract: BACKGROUND: Niemann-Pick disease type C (NPC) is a rare, autosomal recessive, progressive neuro-visceraldisease caused by biallelic mutations in either NPC1gene (95% of cases) or NPC2 gene. AIM: This caseseries study aimed at the molecular analysis of ... ...

Abstract	BACKGROUND: Niemann-Pick disease type C (NPC) is a rare, autosomal recessive, progressive neuro-visceraldisease caused by biallelic mutations in either NPC1gene (95% of cases) or NPC2 gene. AIM: This caseseries study aimed at the molecular analysis of certain hot spots of NPC1 genein NPC Egyptian patients. METHODS: The study included 15 unrelated NPC patients and selected parents,as well as20 healthy controls of matched sex and age. Clinical investigations were performed according to well established clinical criteria. Assessment of the chitotriosidase level, as an initial screening tool for NPC, was done in all cases. Polymerase chain reaction amplification of NPC1 exons (17–25) encountering the hotspot residues (855–1098 and1038–1253) was carried out followed by direct sequencingfor mutational analysis. RESULTS: All includedpatients with mainly neurovisceral involvement were characterized. The onset of the disease varied from early-infantile (58.3%) to late-infantile (26.7%) and juvenile-onset (6.7%). Ahigh chitotriosidase level wasobservedin all patients. Molecular analysis of NPC1 (exons 17–25) confirmed 15 mutant alleles out of 30 studied ones. They included two novel homozygous missense variants (p.Ser1169Arg and p.Ser1197Phe) and previously reportedfour mutations (p.Arg958, p.Gly910Ser, p.Ala927Glyfs38, and andp.Cys1011*). CONCLUSION: The two studied amino acid residues (855–1098 and 1038–1253) could beconsidered aspotential hotspot regions in NPC1 Egyptian patients.
Keywords	Niemann-Pick disease type C ; NPC1 gene ; NPC2 gene ; Hot spot residues ; Medicine ; R
Subject code	610 ; 616
Language	English
Publishing date	2020-05-01T00:00:00Z
Publisher	ID Design 2012/DOOEL Skopje
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

Mahmoud Y. Issa / Zinayida Chechlacz / Valentina Stanley / Renee D. George / Jennifer McEvoy-Venneri / Denice Belandres / Hasnaa M. Elbendary / Khaled R. Gaber / Ahmed Nabil / Mohamed S. Abdel-Hamid / Maha S. Zaki / Joseph G. Gleeson

BMC Medical Genomics, Vol 13, Iss 1, Pp 1-

2020 Volume 10

Abstract: Abstract Background The causes for thousands of individually rare recessive diseases have been discovered since the adoption of next generation sequencing (NGS). Following the molecular diagnosis in older children in a family, parents could use this ... ...

Abstract	Abstract Background The causes for thousands of individually rare recessive diseases have been discovered since the adoption of next generation sequencing (NGS). Following the molecular diagnosis in older children in a family, parents could use this information to opt for fetal genotyping in subsequent pregnancies, which could inform decisions about elective termination of pregnancy. The use of NGS diagnostic sequencing in families has not been demonstrated to yield benefit in subsequent pregnancies to reduce recurrence. Here we evaluated whether genetic diagnosis in older children in families supports reduction in recurrence of recessive neurogenetic disease. Methods Retrospective study involving families with a child with a recessive pediatric brain disease (rPBD) that underwent NGS-based molecular diagnosis. Prenatal molecular testing was offered to couples in which a molecular diagnosis was made, to help couples seeking to prevent recurrence. With this information, families made decisions about elective termination. Pregnancies that were carried to term were assessed for the health of child and mother, and compared with historic recurrence risk of recessive disease. Results Between 2010 and 2016, 1172 families presented with a child a likely rPBD, 526 families received a molecular diagnosis, 91 families returned to the clinic with 101 subsequent pregnancies, and 84 opted for fetal genotyping. Sixty tested negative for recurrence for the biallelic mutation in the fetus, and all, except for one spontaneous abortion, carried to term, and were unaffected at follow-up. Of 24 that genotyped positive for the biallelic mutation, 16 were electively terminated, and 8 were carried to term and showed features of disease similar to that of the older affected sibling(s). Among the 101 pregnancies, disease recurrence in living offspring deviated from the expected 25% to the observed 12% ([95% CI 0·04 to 0·20], p = 0·011). Conclusions Molecular diagnosis in an older child, coupled with prenatal fetal genotyping in ...
Keywords	Internal medicine ; RC31-1245 ; Genetics ; QH426-470
Subject code	610
Language	English
Publishing date	2020-05-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article: Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly

Ismail, Samira / Ashleigh E. Schaffer / Joseph G. Gleeson / Maha S. Zaki / Rasim O. Rosti

Gene. 2014 Apr. 15, v. 539

2014

Abstract: Fukuyama-type congenital muscular dystrophy (FCMD, MIM#253800) is an autosomal recessive disorder characterized by severe muscular dystrophy associated with brain malformations. FCMD is the second most common form of muscular dystrophy after Duchenne ... ...

Abstract	Fukuyama-type congenital muscular dystrophy (FCMD, MIM#253800) is an autosomal recessive disorder characterized by severe muscular dystrophy associated with brain malformations. FCMD is the second most common form of muscular dystrophy after Duchenne muscular dystrophy and one of the most common autosomal recessive diseases among the Japanese population, and yet few patients outside of Japan had been reported with this disorder. We report the first known Egyptian patient with FCMD, established by clinical features of generalized weakness, pseudohypertrophy of calf muscles, progressive joint contractures, severe scoliosis, elevated serum creatine kinase level, myopathic electrodiagnostic changes, brain MRI with cobblestone complex, and mutation in the fukutin gene. In addition, our patient displayed primary microcephaly, not previously reported associated with fukutin mutations. Our results expand the geographic and clinical spectrum of fukutin mutations.
Keywords	abnormal development ; blood serum ; brain ; calves ; creatine kinase ; genes ; magnetic resonance imaging ; muscles ; muscular dystrophy ; mutation ; patients ; scoliosis ; Egypt
Language	English
Dates of publication	2014-0415
Size	p. 279-282.
Publishing place	Elsevier B.V.
Document type	Article
ZDB-ID	391792-7
ISSN	1879-0038 ; 0378-1119
ISSN (online)	1879-0038
ISSN	0378-1119
DOI	10.1016/j.gene.2014.01.070
Database	NAL-Catalogue (AGRICOLA)

In stock of ZB MED Bonn / Germany

Z 79/715: Show issues

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

Sheng-Jia Lin / Barbara Vona / Tracy Lau / Kevin Huang / Maha S. Zaki / Huda Shujaa Aldeen / Ehsan Ghayoor Karimiani / Clarissa Rocca / Mahmoud M. Noureldeen / Ahmed K. Saad / Cassidy Petree / Tobias Bartolomaeus / Rami Abou Jamra / Giovanni Zifarelli / Aditi Gotkhindikar / Ingrid M. Wentzensen / Mingjuan Liao / Emalyn Elise Cork / Pratishtha Varshney /

Narges Hashemi / Mohammad Hasan Mohammadi / Aboulfazl Rad / Juanita Neira / Mehran Beiraghi Toosi / Cordula Knopp / Ingo Kurth / Thomas D. Challman / Rebecca Smith / Asmahan Abdalla / Thomas Haaf / Mohnish Suri / Manali Joshi / Wendy K. Chung / Andres Moreno-De-Luca / Henry Houlden / Reza Maroofian / Gaurav K. Varshney

Genome Medicine, Vol 15, Iss 1, Pp 1-

2023 Volume 24

Abstract: Abstract Background Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association remains ... ...

Abstract	Abstract Background Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association remains to be confirmed. A second OGDHL patient cohort was recruited to carefully assess the gene-disease relationship. Methods Using an unbiased genotype-first approach, we screened large, multiethnic aggregated sequencing datasets worldwide for biallelic OGDHL variants. We used CRISPR/Cas9 to generate zebrafish knockouts of ogdhl, ogdh paralogs, and dhtkd1 to investigate functional relationships and impact during development. Functional complementation with patient variant transcripts was conducted to systematically assess protein functionality as a readout for pathogenicity. Results A cohort of 14 individuals from 12 unrelated families exhibited highly variable clinical phenotypes, with the majority of them presenting at least one additional variant, potentially accounting for a blended phenotype and complicating phenotypic understanding. We also uncovered extreme clinical heterogeneity and high allele frequencies, occasionally incompatible with a fully penetrant recessive disorder. Human cDNA of previously described and new variants were tested in an ogdhl zebrafish knockout model, adding functional evidence for variant reclassification. We disclosed evidence of hypomorphic alleles as well as a loss-of-function variant without deleterious effects in zebrafish variant testing also showing discordant familial segregation, challenging the relationship of OGDHL as a conventional Mendelian gene. Going further, we uncovered evidence for a complex compensatory relationship among OGDH, OGDHL, and DHTKD1 isoenzymes that are associated with neurodevelopmental disorders and exhibit complex transcriptional compensation patterns with partial functional redundancy. Conclusions Based on the results of genetic, clinical, and functional studies, we formed three hypotheses in which to ...
Keywords	2-oxo acid dehydrogenase ; OGDHL ; Genetic compensation ; Disease model ; Zebrafish ; Neurodevelopmental disorders ; Medicine ; R ; Genetics ; QH426-470
Subject code	572
Language	English
Publishing date	2023-11-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Ekin Ucuncu / Karthyayani Rajamani / Miranda S. C. Wilson / Daniel Medina-Cano / Nami Altin / Pierre David / Giulia Barcia / Nathalie Lefort / Céline Banal / Marie-Thérèse Vasilache-Dangles / Gaële Pitelet / Elsa Lorino / Nathalie Rabasse / Eric Bieth / Maha S. Zaki / Meral Topcu / Fatma Mujgan Sonmez / Damir Musaev / Valentina Stanley /

Christine Bole-Feysot / Patrick Nitschké / Arnold Munnich / Nadia Bahi-Buisson / Catherine Fossoud / Fabienne Giuliano / Laurence Colleaux / Lydie Burglen / Joseph G. Gleeson / Nathalie Boddaert / Adolfo Saiardi / Vincent Cantagrel

Nature Communications, Vol 11, Iss 1, Pp 1-

2020 Volume 16

Abstract: Tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, the authors describe an early-onset neurodegenerative syndrome caused by loss-of-function mutations in the MINPP1 gene, characterised by intracellular ... ...

Abstract	Tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, the authors describe an early-onset neurodegenerative syndrome caused by loss-of-function mutations in the MINPP1 gene, characterised by intracellular imbalance of inositol polyphosphate metabolism.
Keywords	Science ; Q
Language	English
Publishing date	2020-11-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Jennifer Friedman / Desiree E. Smith / Mahmoud Y. Issa / Valentina Stanley / Rengang Wang / Marisa I. Mendes / Meredith S. Wright / Kristen Wigby / Amber Hildreth / John R. Crawford / Alanna E. Koehler / Shimul Chowdhury / Shareef Nahas / Liting Zhai / Zhiwen Xu / Wing-Sze Lo / Kiely N. James / Damir Musaev / Andrea Accogli /

Kether Guerrero / Luan T. Tran / Tarek E. I. Omar / Tawfeg Ben-Omran / David Dimmock / Stephen F. Kingsmore / Gajja S. Salomons / Maha S. Zaki / Geneviève Bernard / Joseph G. Gleeson

Nature Communications, Vol 10, Iss 1, Pp 1-

2019 Volume 10

Abstract: Valyl-tRNA synthetase (VARS) charges valyl-tRNA with the amino acid valine, required for translation. Here, the authors describe a progressive epileptic encephalopathy in individuals from five families carrying biallelic mutations in the VARS gene that ... ...

Abstract	Valyl-tRNA synthetase (VARS) charges valyl-tRNA with the amino acid valine, required for translation. Here, the authors describe a progressive epileptic encephalopathy in individuals from five families carrying biallelic mutations in the VARS gene that leave the enzyme activity partially intact.
Keywords	Science ; Q
Language	English
Publishing date	2019-02-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Kether Guerrero / Luan T. Tran / Tarek E. I. Omar / Tawfeg Ben-Omran / David Dimmock / Stephen F. Kingsmore / Gajja S. Salomons / Maha S. Zaki / Geneviève Bernard / Joseph G. Gleeson

Nature Communications, Vol 10, Iss 1, Pp 1-

2019 Volume 10

Abstract	Valyl-tRNA synthetase (VARS) charges valyl-tRNA with the amino acid valine, required for translation. Here, the authors describe a progressive epileptic encephalopathy in individuals from five families carrying biallelic mutations in the VARS gene that leave the enzyme activity partially intact.
Keywords	Science ; Q
Language	English
Publishing date	2019-02-01T00:00:00Z
Publisher	Nature Publishing Group
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

María Cristina Estañ / Elisa Fernández-Núñez / Maha S. Zaki / María Isabel Esteban / Sandra Donkervoort / Cynthia Hawkins / José A. Caparros-Martin / Dimah Saade / Ying Hu / Véronique Bolduc / Katherine Ru-Yui Chao / Julián Nevado / Ana Lamuedra / Raquel Largo / Gabriel Herrero-Beaumont / Javier Regadera / Concepción Hernandez-Chico / Eduardo F. Tizzano / Victor Martinez-Glez /

Jaime J. Carvajal / Ruiting Zong / David L. Nelson / Ghada A. Otaify / Samia Temtamy / Mona Aglan / Mahmoud Issa / Carsten G. Bönnemann / Pablo Lapunzina / Grace Yoon / Victor L. Ruiz-Perez

Nature Communications, Vol 10, Iss 1, Pp 1-

2019 Volume 19

Abstract: FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models. ...

Abstract	FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models.
Keywords	Science ; Q
Language	English
Publishing date	2019-02-01T00:00:00Z
Publisher	Nature Publishing Group
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Jaime J. Carvajal / Ruiting Zong / David L. Nelson / Ghada A. Otaify / Samia Temtamy / Mona Aglan / Mahmoud Issa / Carsten G. Bönnemann / Pablo Lapunzina / Grace Yoon / Victor L. Ruiz-Perez

Nature Communications, Vol 10, Iss 1, Pp 1-

2019 Volume 19

Abstract	FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models.
Keywords	Science ; Q
Language	English
Publishing date	2019-02-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article: Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Lee, Jeong Ho / Anna Rajab / Bill H. Diplas / C. Geoffrey Woods / Carsten Russ / Christopher P. Bennett / Clare V. Logan / Colin A. Johnson / Elizabeth R. Waters / Enza Maria Valente / Erica E. Davis / Francesco Brancati / Friedhelm Hildebrandt / Jennifer L. Silhavy / Ji Eun Lee / Joseph G. Gleeson / Kiley J. Hill / Laszlo Sztriha / Lihadh Al-Gazali /

Maha S. Zaki / Masumi Abe / Miriam Iannicelli / Nicholas Katsanis / Roshan Koul / Saghira Malik Sharif / Sophie Thomas / Stacey B. Gabriel / Stephanie L. Bielas / Susan Ferro-Novick / Tania AttiÃ©-Bitach

Science. 2012 Feb. 24, v. 335, no. 6071

2012

Abstract: Neighboring genes are often coordinately expressed within cis-regulatory modules, but evidence that nonparalogous genes share functions in mammals is lacking. Here, we report that mutation of either TMEM138 or TMEM216 causes a phenotypically ... ...

Abstract	Neighboring genes are often coordinately expressed within cis-regulatory modules, but evidence that nonparalogous genes share functions in mammals is lacking. Here, we report that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable human ciliopathy, Joubert syndrome. Despite a lack of sequence homology, the genes are aligned in a head-to-tail configuration and joined by chromosomal rearrangement at the amphibian-to-reptile evolutionary transition. Expression of the two genes is mediated by a conserved regulatory element in the noncoding intergenic region. Coordinated expression is important for their interdependent cellular role in vesicular transport to primary cilia. Hence, during vertebrate evolution of genes involved in ciliogenesis, nonparalogous genes were arranged to a functional gene cluster with shared regulatory elements.
Keywords	chromosome aberrations ; cilia ; evolution ; humans ; intergenic DNA ; loci ; multigene family ; mutation ; regulatory sequences ; sequence homology
Language	English
Dates of publication	2012-0224
Size	p. 966-969.
Publishing place	American Association for the Advancement of Science
Document type	Article
ZDB-ID	128410-1
ISSN	1095-9203 ; 0036-8075
ISSN (online)	1095-9203
ISSN	0036-8075
DOI	10.1126/science.1213506
Database	NAL-Catalogue (AGRICOLA)

In stock of ZB MED Bonn / Germany

Z 4' 46/137: Show issues
+ C 27: Show issues
Z50.00 SC01: Show issues
Z 8.9: Show issues

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾
- See ZB MED holdings
- Order with fees

To top

Full text online

More links

Kategorien

Inter-library loan at ZB MED

Full text online

More links

Kategorien

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Bonn / Germany

Order via subito

Inter-library loan at ZB MED

Full text online

More links

Kategorien

Inter-library loan at ZB MED

Full text online

More links

Kategorien

Inter-library loan at ZB MED

Full text online

More links

Kategorien

Inter-library loan at ZB MED

Full text online

More links

Kategorien

Inter-library loan at ZB MED

Full text online

More links

Kategorien

Inter-library loan at ZB MED

Full text online

More links

Kategorien

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Bonn / Germany

Order via subito

Inter-library loan at ZB MED