Evidence map›Paper›PMID 39598243›Full record

ArticleLife (Basel, Switzerland)2024

Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] in Cystic Fibrosis and Tracing of a Founder Effect in Mexican Families.

Namibia Guadalupe Mendiola-Vidal, Cecilia Contreras-Cubas, Francisco Barajas-Olmos, José Rafael Villafan-Bernal, Ana Lucia Yañez-Felix, Humberto García-Ortiz, Federico Centeno-Cruz, Elvia Mendoza-Caamal, Carmen Alaez-Verson, Juan Luis Jiménez-Ruíz and 6 more

Abstract read
In one paragraph

Article in Life (Basel, Switzerland), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Cystic Fibrosis: A Disease with a New Face.Life (Basel, Switzerland) · 2026
    Article
  2. 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

16 authors.

Namibia Guadalupe Mendiola-VidalImmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Tlalpan, Mexico City 14610, Mexico.
Cecilia Contreras-CubasImmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Tlalpan, Mexico City 14610, Mexico.ORCID 0000-0002-7994-3831
Francisco Barajas-OlmosImmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Tlalpan, Mexico City 14610, Mexico.ORCID 0000-0001-5064-6203
José Rafael Villafan-BernalImmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Tlalpan, Mexico City 14610, Mexico.
Ana Lucia Yañez-FelixImmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Tlalpan, Mexico City 14610, Mexico.ORCID 0000-0002-1662-9239
Humberto García-OrtizImmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Tlalpan, Mexico City 14610, Mexico.ORCID 0000-0002-0453-980X
Federico Centeno-CruzImmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Tlalpan, Mexico City 14610, Mexico.ORCID 0000-0002-3512-4519
Elvia Mendoza-CaamalClinical Area, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Tlalpan, Mexico City 14610, Mexico.ORCID 0000-0002-6224-6829
Carmen Alaez-VersonGenomic Diagnostic Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Tlalpan, Mexico City 14610, Mexico.ORCID 0000-0003-1042-8505
Juan Luis Jiménez-RuízImmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Tlalpan, Mexico City 14610, Mexico.ORCID 0000-0003-4859-1703
Tulia Monge-CázaresImmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Tlalpan, Mexico City 14610, Mexico.
Esther LiebermanHuman Genetic Department, Instituto Nacional de Pediatría, Secretaría de Salud, Coyoacán, Mexico City 04530, Mexico.
Vicente BacaRheumatology Department, Hospital de Pediatría, CMN Siglo XXI IMSS, Cuauhtémoc, Mexico City 06720, Mexico.
José Luis LezanaCystic Fibrosis Clinic and Pulmonary Physiology Laboratory, Hospital Infantil de México Federico Gómez, Secretaría de Salud, Cuauhtemoc, Mexico City 06720, Mexico.ORCID 0000-0002-5064-4790
Angélica Martínez-HernándezImmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Tlalpan, Mexico City 14610, Mexico.
Lorena OrozcoImmunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Tlalpan, Mexico City 14610, Mexico.

Funding

National Institute of Genomic Medicine 12/2015/I
6 · The paper itself

Abstract

Cystic fibrosis (CF) is a rare autosomal recessive disease most commonly affecting the Caucasian population. CF diagnosis can be a challenge due to the large spectrum of pathogenic variants in the CFTR gene and the effects of complex alleles. Next-generation sequencing has improved our understanding of the contribution of these complex alleles to the wide spectrum of CF clinical symptoms and to the response to medications. Herein, we studied nine CF patients from six unrelated families carrying the complex allele p.[Ile148Thr;Ile1023_Val1024del] with a frequency of 0.18%. All patients were from Central Mexico. This complex allele was found

Indexed as

3199del6CFTR genecomplex allelefounder effectI148TMexican familiesp.(Ile1023_Val1024del)p.(Ile148Thr)

Identifiers

PMID39598243
PMCPMC11596012

What OpenQuestion holds

Textmetadata
LicenceCC BY
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 OpenQuestion graph.