Results 121 to 130 of about 16,795 (294)

Multilocus Genetic Variants in a Child With Neuro‐Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated With CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3–q32.11 Deletion

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Neuro‐ichthyosis is a rare group of disorders characterized by the coexistence of neurological dysfunction and ichthyotic skin changes. We report a 5‐year‐old girl born to consanguineous parents who presented with pharmacoresistant epilepsy, severe developmental delay, microcephaly, and ichthyosis.
Bessan Hamed Dababseh, Ala'a S. Ghnimat, Lubna W. AbuHamdiya, Mones H. Atatre, Ahmad Batran, Mahdi W. Suboh   +5 more
wiley   +1 more source

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy [PDF]

, 2014
Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
Arts, Heleen H, Coppieters, Frauke, Cremers, Frans PM, De Baere, Elfride, de Vrieze, Erik, den Hollander, Anneke I, Hetterschijt, Lisette, Hoyng, Carel B, Kremer, Hannie, Lambertus, Stanley, Lamers, Ideke JC, Letteboer, Stef JF, Peters, Theo A, POC1B Study Group, the, Roepman, Ronald, Roosing, Susanne, van den Born, L Ingeborgh, van Wijk, Erwin   +17 more
core   +2 more sources

An emerging molecular understanding and novel targeted treatment approaches in pediatric kidney diseases

Frontiers in Pediatrics, 2014
The evaluation and treatment of the heterogeneous group of pediatric kidney diseases poses a challenging field in pediatrics. Many of the pediatric disorders resulting in severe renal affection are exceedingly rare and therapeutic approaches have ...
Max Christoph Liebau, Max Christoph Liebau   +1 more
doaj   +1 more source

A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies [PDF]

, 2020
Liliya Nazlamova, N. Simon Thomas, Man‐Kim Cheung, Jelmer Legebeke, Jenny Lord, Reuben J. Pengelly, William Tapper, Gabrielle Wheway   +7 more
openalex   +1 more source

Wnt Signaling Pathway: Biological Function, Diseases, and Therapeutic Interventions

MedComm, Volume 7, Issue 1, January 2026.
The Wnt signaling pathway is essential for development and tissue homeostasis, while its dysregulation drives diverse diseases. This review systematically outlines its components, functions, regulators, and preclinical models, highlighting secreted frizzled‐related proteins (SFRPs) as context‐dependent, biphasic modulators.
Xiaoyu Jin, Jiahui Wang, Runyi Cao, Dongsheng Jiang   +3 more
wiley   +1 more source

Nystagmus in a newborn: a manifestation of Joubert syndrome in the neonatal period. [PDF]

, 2016
Joubert syndrome is a rare disorder, usually autosomal recessive, with a prevalence of 1:80 000 to 1:100 000. This disease presents most commonly as breathing irregularities, although the two major clinical criteria are hypotonia and developmental delay,
Albuquerque, C, Dâmaso, C, Moreira, A, Salva, I   +3 more
core   +1 more source

Primary Cilia, Hypoxia, and Liver Dysfunction: A New Perspective on Biliary Atresia

Cells
Ciliopathies are disorders that affect primary or secondary cellular cilia or structures associated with ciliary function. Primary cilia (PC) are essential for metabolic regulation and embryonic development, and pathogenic variants in cilia-related genes
Patrícia Quelhas, Diogo Morgado, Jorge dos Santos   +2 more
doaj   +1 more source

Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

Frontiers in Genetics, 2019
Cilia are highly specialized cellular organelles that serve multiple functions in human development and health. Their central importance in the body is demonstrated by the occurrence of a diverse range of developmental disorders that arise from defects ...
G. Wheway, J. C. E. L. M. F. J. M. C. R. M. J. G. C. C. E. H. L. Ambrose Baple Bleda Boardman-Pretty Boissiere Bous, H. Mitchison   +2 more
semanticscholar   +1 more source

The emerging role of tubulin posttranslational modifications in cilia and ciliopathies

Biophysics Reports, 2020
Tubulin posttranslational modifications (PTMs) add “tubulin code” to generate functional diversities of microtubules. Several types of tubulin PTMs accumulate on axonemes and basal bodies of cilia, including acetylation, glutamylation, glycylation and ...
Kun Ling Jinghua Hu Kai He
semanticscholar   +1 more source

Inducible Ift88‐deficient mice show features consistent with mild pulmonary hypertension

Physiological Reports, Volume 14, Issue 2, January 2026.
Abstract Intraflagellar transport protein 88 (IFT88) is essential for primary and motile cilia formation. In murine models and humans, Ift88 mutations contribute to renal cysts, epithelial proliferation and impaired immune responses. In mice, Ift88 knockout (KO) reduces airway cilia, increases airway epithelial proliferation and hyperreactivity ...
Selina M. Garcia, Benjamin J. Lantz, Helen J. Wagner, David T. Jones, Rene Arechiga‐Gonzalez, Tamara A. Howard, Sana Gul, Terry H. Wu, Thomas F. Byrd, Olivia C. Heath, Laura V. Gonzalez Bosc   +10 more
wiley   +1 more source