Evidence map›Paper›PMID 39587573›Full record

ArticleBMC medical genomics2024

Concomitant telomere attrition is associated with spinal muscular atrophy in highly inbred region of North India: unraveling the thread in Kashmir region.

Rukhsana Hassan, Gh Rasool Bhat, Feroze Ahmad Mir, Hilal Ahmad Ganie, Ifra Mushtaq, Mushtaq Ahmad Bhat, Ravouf Parvez Asimi, Dil Afroze

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Evaluation of the Telomere Length in Patients with Spinal Muscular Atrophy.International journal of molecular sciences · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Rukhsana HassanAdvanced Centre for Human Genetics, Sher.i. Kashmir Institute of Medical Sciences, Soura, Jammu, Kashmir, India.
Gh Rasool Bhat *Advanced Centre for Human Genetics, Sher.i. Kashmir Institute of Medical Sciences, Soura, Jammu, Kashmir, India.
Feroze Ahmad Mir *Department of Neurology, Sher.i. Kashmir Institute of Medical Sciences, Soura, Jammu, Kashmir, India.
Hilal Ahmad GanieDepartment of Neurology, Sher.i. Kashmir Institute of Medical Sciences, Soura, Jammu, Kashmir, India.
Ifra MushtaqAdvanced Centre for Human Genetics, Sher.i. Kashmir Institute of Medical Sciences, Soura, Jammu, Kashmir, India.
Mushtaq Ahmad BhatDepartment of Pediatrics, Sher.i. Kashmir Institute of Medical Sciences, Soura, Jammu, Kashmir, India.
Ravouf Parvez AsimiDepartment of Neurology, Sher.i. Kashmir Institute of Medical Sciences, Soura, Jammu, Kashmir, India.
Dil AfrozeAdvanced Centre for Human Genetics, Sher.i. Kashmir Institute of Medical Sciences, Soura, Jammu, Kashmir, India. afrozedil@gmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinal muscular atrophy (SMA) is a rare genetic disorder that unequivocally results in the degeneration of motor neurons, leading to muscle weakness and atrophy. This condition is caused by a mutation in the survival motor neuron 1 (SMN1) gene, which inevitably results in a deficiency of the SMN protein. In present study, we investigated the potential role of telomere attrition in SMA patients. Relative telomere length in peripheral blood lymphocytes was measured by Monochrome Multiplex Quantitative Polymerase Chain Reaction (MMQPCR) in 98 subjects and we conclusively found that SMA cases exhibit telomere attrition compared to healthy controls (P = 4 × 10

Indexed as

Muscular Atrophy, SpinalTelomereTelomere ShorteningAdolescentAdultCase-Control StudiesChildChild, PreschoolFemaleHumansIndiaInfantMaleSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 1 ProteinSpinal muscular atrophy (SMA)Survival Motor NeuronTelomere attritionTelomere length

Identifiers

PMID39587573
PMCPMC11587541

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.