Results 51 to 60 of about 6,310 (174)

Genetic diseases with impaired central respiratory control

The EuroBiotech Journal, 2017
Respiration is controlled by the complex orchestration of central nervous system centers, peripheral chemoreceptors and muscles of respiration and is shaped by complex ontogenetic factors.
Rosso Lourdes M. Del, Ferri Raffaele
doaj   +1 more source

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Clinical Genetics, Volume 109, Issue 2, Page 305-315, February 2026.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas   +19 more
wiley   +1 more source

Adult-onset bulbar ptosis in Joubert syndrome

Clinical Ophthalmology, 2012
Benjamin Burt, Johanan Levine, Kim LeTexas Tech University, Department of Ophthalmology, Paul L Foster School of Medicine, El Paso, TexasAbstract: In this case report, we describe a case of adult-onset bulbar ptosis in a patient with Joubert syndrome ...
Burt B, Levine J, Le K
doaj  

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

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

Joubert Syndrome, A Ciliopathy

Pediatric Neurology Briefs, 2013
Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS ...
J Gordon Millichap
doaj   +1 more source

Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway. [PDF]

J Cell Mol Med
Hong Z, Xiang S, Chen Z, Qiu X, Zhang L, Ma L, Wang M.   +6 more
europepmc   +2 more sources

Fetal Macrocephaly: Prenatal Findings and Follow‐Up in Cases With High Risk for Abnormal Outcome

Prenatal Diagnosis, Volume 46, Issue 1, Page 125-137, January 2026.
ABSTRACT Objective Fetal macrocephaly (HC Z‐score ≥ +2) is a common reason for referral for neurosonography. While most cases are benign and asymptomatic, syndromic macrocephaly poses a significant risk of abnormal neurodevelopment. This study aimed to describe the sonographic and genetic features of fetuses at the highest risk of syndromic ...
Hadas Miremberg, Gustavo Malinger, Deborah Kidron, Michal Levy, Yuval Yaron, Mordechai Shohat, Rayna Goldstein, Liat Ben Sira, Michael Brusilov, Roee Birnbaum, Karina Krajden Haratz   +10 more
wiley   +1 more source

Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism

Frontiers in Pediatrics
Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental condition characterized by congenital mid-hindbrain abnormalities and a variety of clinical manifestations. This article describes a case of Joubert syndrome type 21 with microcephaly,
Caichuan Wei, Haiju Zhang, Miaoying Fu, Jingping Ye, Baozhen Yao   +4 more
doaj   +1 more source

Midterm Outcome of AB0 Incompatible Kidney Transplantation in Children and Adolescents—A Single Center Experience

Pediatric Transplantation, Volume 30, Issue 1, January 2026.
AB0‐incompatible kidney transplantation in children can be performed with excellent results. Midterm outcome of AB0 incompatible KTx was not inferior to that of AB0 compatible KTx. Graft survival and graft function were comparably good in both groups. There was no increase in infectious complications or malignancies with AB0i KTx.
Christina Taylan, Sabine I. Mückenhausen, Lutz T. Weber, Dirk L. Stippel, Julia Thumfart   +4 more
wiley   +1 more source