Jamal Nasir

2020

Whole exome sequencing reveals a homozygous SGCB variant in a Pakhtun family with limb girdle muscular dystrophy (LGMDR4) phenotype

Tariq, M., Latif, M., Inam, M., Jan, A., Bibi, N., Mohamoud, H. S. A., Ali, I., Ahmad, H., Khan, A., Nasir, J., Wadood, A. & Jelani, M., 26 Dec 2020, (E-pub ahead of print) In: Gene Reports. 22, p. 101-14

Research output: Contribution to Journal › Article › peer-review

2019

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

Jelani, M., Dooley, H. C., Gubas, A., Mohamoud, H. S. A., Masood Khan, M. T., Ali, Z., Kang, C., Rahim, F., Jan, A., Vadgama, N., Khan, M. I., Al-Aama, J. Y., Khan, A., Tooze, S. A. & Nasir, J., 10 Apr 2019, (E-pub ahead of print) In: Brain. 142, 5, p. 1242-1254 13 p.

Research output: Contribution to Journal › Article › peer-review

Open Access

File

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

Vadgama, N., Pittman, A., Simpson, M., Nirmalananthan, N., Murray, R., Yoshikawa, T., De Rijk, P., Rees, E., Kirov, G., Hughes, D., Fitzgerald, T., Kristiansen, M., Pearce, K., Cerveira, E., Zhu, Q., Zhang, C., Lee, C., Hardy, J. & Nasir, J., 18 Mar 2019, (E-pub ahead of print) In: European journal of human genetics : EJHG. 27, p. 1121-1133 13 p.

Research output: Contribution to Journal › Article › peer-review

Open Access

File

Distinct proteomic profiles in monozygotic twins discordant for ischaemic stroke

Vadgama, N., Lamont, D., Hardy, J., Nasir, J. & Lovering, R. C., 29 Jan 2019, In: Molecular and Cellular Biochemistry. 456, 1-2, p. 157-165 9 p.

Research output: Contribution to Journal › Article › peer-review

Open Access

File

Overexpression of the dopamine receptor‐interacting protein Alix/ AIP 1 modulates NMDA receptor‐triggered cell death

Nasir, J., 1 Jun 2019, In: FEBS Letters. 593, 12, p. 1381-1391 11 p.

Research output: Contribution to Journal › Article › peer-review

Open Access

File

2018

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

Mohamoud, H. S., Ahmed, S., Jelani, M., Alrayes, N., Childs, K., Vadgama, N., Almramhi, M. M., Al-Aama, J. Y., Goodbourn, S. & Nasir, J., 1 Feb 2018, (E-pub ahead of print) In: Scientific Reports. 8, 1, p. 1-9 9 p., 2053 (2018) .

Research output: Contribution to Journal › Article › peer-review

Open Access

File

2015

Elevated γ-glutamyltransferase and erythrocyte sedimentation rate in ischemic stroke in discordant monozygotic twin study

Vadgama, N., Gaze, D., Ranson, J., Hardy, J. & Nasir, J., 1 Jun 2015, In: International Journal of Stroke. 10, 4, p. E32-E33 2 p.

Research output: Contribution to Journal › Article › peer-review

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

Ahmed, S., Jelani, M., Alrayes, N., Mohamoud, H. S. A., Almramhi, M. M., Anshasi, W., Ahmed, N. A. B., Wang, J., Nasir, J. & Al-Aama, J. Y., 15 Jun 2015, In: Journal of the Neurological Sciences. 353, 1-2, p. 149-154 6 p.

Research output: Contribution to Journal › Article › peer-review

Identical non-identical twins and non-identical identical twins

Vadgama, N., Nirmalananthan, N., Sadiq, M., Hardy, J. & Nasir, J., 11 Dec 2015, In: BMJ (Online). 351, p. 1-1 1 p.

Research output: Contribution to Journal › Letter

Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

Alrayes, N., Mohamoud, H. S. A., Jelani, M., Ahmad, S., Vadgama, N., Bakur, K., Simpson, M., Al-Aama, J. Y. & Nasir, J., 27 Jun 2015, In: BMC Research Notes. 8, 1

Research output: Contribution to Journal › Article › peer-review

Open Access

2010

Genetics of speech sounds great

Nasir, J., 19 Jul 2010, In: Clinical Genetics. 54, 2, p. 117-118 2 p.

Research output: Contribution to Journal › Article

2009

CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment

Newbury, D. F., Winchester, L., Addis, L., Paracchini, S., Buckingham, L. L., Clark, A., Cohen, W., Cowie, H., Dworzynski, K., Everitt, A., Goodyer, I. M., Hennessy, E., Kindley, A. D., Miller, L. L., Nasir, J., O'Hare, A., Shaw, D., Simkin, Z., Simonoff, E., Slonims, V. & 11 others, Watson, J., Ragoussis, J., Fisher, S. E., Seckl, J. R., Helms, P. J., Bolton, P. F., Pickles, A., Conti-Ramsden, G., Baird, G., Bishop, D. V. M. & Monaco, A. P., 14 Aug 2009, In: The American Journal of Human Genetics. 85, 2, p. 264-272 9 p.

Research output: Contribution to Journal › Article › peer-review

2008

Abnormal vibration-induced illusion of movement in idiopathic focal dystonia: An endophenotypic marker?

Frima, N., Nasir, J. & Grünewald, R. A., 15 Feb 2008, In: Movement Disorders. 23, 3, p. 373-377 5 p.

Research output: Contribution to Journal › Article › peer-review

ALG-2 interacting protein AIP1: A novel link between D1 and D3 signalling

Zhan, L., Liu, B., Jose-Lafuente, M., Chibalina, M. V., Grierson, A., Maclean, A. & Nasir, J., Apr 2008, In: European Journal of Neuroscience. 27, 7, p. 1626-1633 8 p.

Research output: Contribution to Journal › Article › peer-review

2007

Severe receptive language disorder in childhood-familial aspects and long-term outcomes: Results from a Scottish study

Clark, A., O'Hare, A., Watson, J., Cohen, W., Cowie, H., Elton, R., Nasir, J. & Seckl, J., 1 Jul 2007, In: Archives of Disease in Childhood. 92, 7, p. 614-619 6 p.

Research output: Contribution to Journal › Article › peer-review

2006

Unbalanced whole arm translocation resulting in loss of 18p in dystonia

Nasir, J., Frima, N., Pickard, B., Malloy, M. P., Zhan, L. & Grünewald, R., Jun 2006, In: Movement Disorders. 21, 6, p. 859-863 5 p.

Research output: Contribution to Journal › Article › peer-review

2003

A genetic screen for suppression of polyglutamine induced toxicity in flies

Nasir, J., 11 Mar 2003, In: Clinical Genetics. 57, 6, p. 418-419 2 p.

Research output: Contribution to Journal › Article

A second gene for myotonic dystrophy

Nasir, J., 11 Mar 2003, In: Clinical Genetics. 55, 1, p. 12-12 1 p.

Research output: Contribution to Journal › Article

Expression profiling in cancer using gene chips

Nasir, J., 11 Mar 2003, In: Clinical Genetics. 57, 6, p. 415-416 2 p.

Research output: Contribution to Journal › Article

Genetics of sexual orientation

Nasir, J., 11 Mar 2003, In: Clinical Genetics. 56, 5, p. 340-341 2 p.

Research output: Contribution to Journal › Article

Hopes pinned on microarray technology to defeat TB

Nasir, J., 11 Mar 2003, In: Clinical Genetics. 56, 5, p. 339-340 2 p.

Research output: Contribution to Journal › Article

HotSpots: Catch 22

Nasir, J., 11 Mar 2003, In: Clinical Genetics. 55, 6, p. 396-397 2 p.

Research output: Contribution to Journal › Article

HotSpots: The Fat gene

Nasir, J., 11 Mar 2003, In: Clinical Genetics. 55, 6, p. 395-395 1 p.

Research output: Contribution to Journal › Article

Interacting proteins in yeast - a perfect marriage

Nasir, J., 11 Mar 2003, In: Clinical Genetics. 57, 6, p. 416-417 2 p.

Research output: Contribution to Journal › Article

2002

Analysis of triplet repeat disorders: D. C. Rubinsztein and M. R. Hayden (Editors)

Nasir, J., 25 Aug 2002, In: Human Molecular Genetics. 104, 4, p. 357-357 1 p.

Research output: Contribution to Journal › Article

BRCA2 and p53 work together in breast cancer

Nasir, J., 2002, In: The Lancet Oncology. 3, 2, p. 69

Research output: Contribution to Journal › Article

DNA microarrays give breast cancer leads

Nasir, J., 25 Jul 2002, In: The Lancet Oncology. 2, 2, p. 68

Research output: Contribution to Journal › Article

Genomic organization of the human caspase-9 gene on Chromosome 1p36.1-p36.3

Vaillancourt, J. P., Beatty, B. G., Rasper, D. M., Hayden, M. R., Nichol, K., Hadano, S., Ikeda, J-E., Sherer, S. W. & Nasir, J., 25 Aug 2002, In: Mammalian Genome. 10, 7, p. 757-760 4 p.

Research output: Contribution to Journal › Article › peer-review

Novel therapy for basal-cell carcinoma

Nasir, J., 25 Jul 2002, In: The Lancet Oncology. 1, 2, p. 67

Research output: Contribution to Journal › Article

Protection against breast cancer in mice lacking a key protein

Nasir, J., 25 Jul 2002, In: The Lancet Oncology. 2, 8, p. 465

Research output: Contribution to Journal › Article

2001

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

Hadano, S., Hand, C. K., Osuga, H., Yanagisawa, Y., Otomo, A., Devon, R. S., Miyamoto, N., Showguchi-Miyata, J., Okada, Y., Singaraja, R., Figlewicz, D. A., Kwiatkowski, T., Hosler, B. A., Sagie, T., Skaug, J., Nasir, J., Brown, R. H., Scherer, S. W., Rouleau, G. A., Hayden, M. R. & 1 others, Ikeda, J. E., 1 Oct 2001, In: Nature Genetics. 29, p. 166-173 8 p.

Research output: Contribution to Journal › Article › peer-review

Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: Candidate genes for ALS2

Hadano, S., Yanagisawa, Y., Skaug, J., Fichter, K., Nasir, J., Martindale, D., Koop, B. F., Scherer, S. W., Nicholson, D. W., Rouleau, G. A., Ikeda, J. E. & Hayden, M. R., 15 Jan 2001, In: Genomics. 71, 2, p. 200-213 14 p.

Research output: Contribution to Journal › Article › peer-review

HotSpots: Neurogenesis challenges age old dogma

Nasir, J., 24 Dec 2001, (E-pub ahead of print) In: Clinical Genetics. 55, 6, p. 395-396 2 p.

Research output: Contribution to Journal › Article

Sunburn in childhood linked to melanoma

Nasir, J., 2001, In: The Lancet Oncology. 2, 11, p. 653

Research output: Contribution to Journal › Article

2000

Tumor resistance in mice lacking telomerase

Nasir, J., 9 Sep 2000, In: The Lancet. 356, 9233, p. 917

Research output: Contribution to Journal › Article

1999

A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration

Hodgson, J. G., Agopyan, N., Gutekunst, C. A., Leavitt, B. R., Lepiane, F., Singaraja, R., Smith, D. J., Bissada, N., McCutcheon, K., Nasir, J., Jamot, L., Xiao-Jiang, L., Stevens, M. E., Rosemond, E., Roder, J. C., Phillips, A. G., Rubin, E. M., Hersch, S. M. & Hayden, M. R., 1999, In: Neuron. 23, p. 181-192 12 p.

Research output: Contribution to Journal › Article › peer-review

A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34

Hadano, S., Nichol, K., Brinkman, R. R., Nasir, J., Martindale, D., Koop, B. F., Nicholson, D. W., Scherer, S. W., Ikeda, J. E. & Hayden, M. R., 1 Jan 1999, In: BMC Genomics. 55, 1, p. 106-112 7 p.

Research output: Contribution to Journal › Article › peer-review

Life without Huntingtin: Normal differentiation into functional neurons

Metzler, M., Chen, N., Helgason, C. D., Graham, R. K., Nichol, K., McCutcheon, K., Nasir, J., Humphries, R. K., Raymond, L. A. & Hayden, M. R., 1 Mar 1999, In: Journal of Neurochemistry. 72, p. 1009-1018 10 p.

Research output: Contribution to Journal › Article › peer-review

Neuronal degeneration in the basal ganglia and loss of pallido- subthalamic synapses in mice with targeted disruption of the Huntington's disease gene

O'Kusky, J. R., Nasir, J., Cicchetti, F., Parent, A. & Hayden, M. R., 13 Feb 1999, In: Brain Research. 818, 2, p. 468-479 12 p.

Research output: Contribution to Journal › Article › peer-review

1998

Cell death attenuation by 'Usurpin', a mammalian DED-caspase homologue that precludes caspase-8 recruitment and activation by the CD-95 (Fas, APO-1) receptor complex

Rasper, D. M., Vaillancourt, J. P., Hadano, S., Houtzager, V. M., Seiden, I., Keen, S. L. C., Tawa, P., Xanthoudakis, S., Nasir, J., Martindale, D., Koop, B. F., Peterson, E. P., Thornberry, N. A., Huang, J. Q., MacPherson, D. P., Black, S. C., Hornung, F., Lenardo, M. J., Hayden, M. R., Roy, S. & 1 others, Nicholson, D. W., 1998, In: Cell Death and Differentiation. 5, 4, p. 271-288 18 p.

Research output: Contribution to Journal › Article › peer-review

1997

Interleukin-1β-converting enzyme (ICE) and related cell death genes ICE(rel)-II and ICE(rel)-III map to the same PAC clone at band 11q22.2-22.3

Nasir, J., Theilmann, J. L., Vaillancourt, J. P., Munday, N. A., Ali, A., Scherer, S., Beatty, B., Nicholson, D. W. & Hayden, M. R., 1997, In: Mammalian Genome. 8, 8, p. 611-613 3 p.

Research output: Contribution to Journal › Article › peer-review

1996

Huntington disease: new insights into the relationship between CAG expansion and disease

Nasir, J., Goldberg, Y. P. & Hayden, M. R., 1996, In: Human Molecular Genetics Review. 5, p. 1431-1435 5 p.

Research output: Contribution to Journal › Article › peer-review

1995

Genomic organization of the human α-adducin gene and its alternately spliced isoforms

Lin, B., Nasir, J., McDonald, H., Graham, R., Rommens, J. M., Goldberg, Y. P. & Hayden, M. R., 1 Jan 1995, In: Genomics. 25, 1, p. 93-99 7 p.

Research output: Contribution to Journal › Article › peer-review

Structural analysis of the 5′ region of mouse and human huntington disease genes reveals conservation of putative promoter region and di- and trinucleotide polymorphisms

Lin, B., Nasir, J., Kalchman, M. A., McDonald, H., Zeisler, J., Goldberg, Y. P. & Hayden, M. R., 1995, In: BMC Genomics. 25, 3, p. 707-715 9 p.

Research output: Contribution to Journal › Article › peer-review

Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes

Nasir, J., Floresco, S. B., O'Kusky, J. R., Diewert, V. M., Richman, J. M., Zeisler, J., Borowski, A., Marth, J. D., Phillips, A. G. & Hayden, M. R., 2 Jun 1995, In: Cell. 81, 5, p. 811-823 13 p.

Research output: Contribution to Journal › Article › peer-review

Open Access

1994

Murine α-l-Iduronidase: cDNA isolation and expression

Clarke, L. A., Nasir, J., Zhang, H., McDonald, H., Applegarth, D. A., Hayden, M. R. & Toone, J., 15 Nov 1994, In: BMC Genomics. 24, 2, p. 311-316 6 p.

Research output: Contribution to Journal › Article › peer-review

The murine homologues of the huntington disease gene (Hdh) and the α-adducin gene (Add1) map to mouse chromosome 5 within a region of conserved synteny with human chromosome 4p16.3

Nasir, J., Lin, B., Bucan, M., Koizumi, T., Nadeau, J. H. & Hayden, M. R., 1 Jul 1994, In: BMC Genomics. 22, 1, p. 198-201 4 p.

Research output: Contribution to Journal › Article › peer-review

1993

Differential 3' polyadenylation of the huntington disease gene results in two mRNA species with variable tissue expression

Lin, B., Rommens, J. M., Graham, R. K., Kalchman, M., Macdonald, H., Nasir, J., Delaney, A., Goldberg, Y. P. & Hayden, M. R., 1 Oct 1993, In: Human Molecular Genetics. 2, 10, p. 1541-1545 5 p.

Research output: Contribution to Journal › Article › peer-review

Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease

Goldberg, Y. P., Rommens, J. M., Andrew, S. E., Hutchinson, G. B., Lin, B., Theilmann, J., Graham, R., Glaves, M. L., Starr, E., McDonald, H., Nasir, J., Schappert, K., Kalchman, M. A., Clarke, L. A. & Hayden, M. R., 1993, In: Nature. 362, 6418, p. 370-373 4 p.

Research output: Contribution to Journal › Article › peer-review

1991

Co-amplification of L1 line elements with localised low copy repeats in giemsa dark bands: Implications for genome organisation

Nasir, J., Maconochie, M. K. & Brown, D. M., 25 Jun 1991, In: Nucleic Acids Research. 19, 12, p. 3255-3260 6 p.

Research output: Contribution to Journal › Article › peer-review

Dr Jamal Nasir

Research output

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