Results 71 to 80 of about 4,530,510 (207)

Primary ciliary dyskinesia in the genomics age [PDF]

, 2020
Primary ciliary dyskinesia is a genetically and clinically heterogeneous syndrome. Impaired function of motile cilia causes failure of mucociliary clearance. Patients typically present with neonatal respiratory distress of unknown cause and then continue
Omran, Heymut, Davis, Stephanie D., Lucas, Jane S., Shoemark, Amelia; id_orcid, Lucas, Jane, Shoemark, Amelia   +5 more
core   +1 more source

Primary Ciliary Dyskinesia : A Case Presentation and A Current Review

Siriraj Medical Journal, 2020
We present a 14 year-old girl with a history of chronic rhinorrhoea and nasal obstruction. Physical findings showed huge nasal polyp with broadening of the nasal bridge, perforation of the left ear drum and a right middle ear effusion.
Weerachai Tantinikorn, Kitirat Ungkanont, Vanneet Khawcharoenporn   +2 more
doaj  

Biallelic Truncating Variant in LRGUK Is Associated With Severe Multiple Morphological Abnormalities of the Sperm Flagella and Sperm Nuclear Defects in Humans

Clinical Genetics, Volume 110, Issue 5, Page 538-548, November 2026.
A homozygous truncating variant in LRGUK results in loss of the LRGUK protein and causes multiple morphological abnormalities of the flagella (MMAF), disrupted axonemal architecture, central pair defects, abnormal chromatin organization, and severe male infertility, establishing LRGUK as a novel human infertility gene.
Wiâme Mokkedem, Zeina Wehbe, Anne‐Laure Barbotin, Angèle Boursier, Célia Tebbakh, Nicolas Thierry‐Mieg, Marie Bidart, Antonella Migliaccio, Rosanna Chianese, Christophe Arnoult, Raoudha Zouari, Zine‐Eddine Kherraf, Pierre F. Ray, Guillaume Martinez, Charles Coutton   +14 more
wiley   +1 more source

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1

Clinical Genetics, Volume 110, Issue 5, Page 574-583, November 2026.
Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do, Thi Thanh Thuy Le, Marjolaine Gauthier, Charlotte Dubucs, Jeremie Mortreux, Pauline Monin, Nicolas Chatron, Françoise Devillard, Charles Coutton, Véronique Satre, Radu Harbuz, William Dufour, Louis Januel, Tristan Celse, Clara Paris, Auragen Consortium, Le Tuyet Mai Tran, Huu Tung Trinh, Pierre‐Simon Jouk, Ba Luu Truong, Thi Kim Nhi Nguyen, Julien Thevenon   +23 more
wiley   +1 more source

Modern Approaches to the Diagnosis and Management of Children With Primary Ciliary Dyskinesia

Педиатрическая фармакология, 2017
The article presents the most modern positions of healthcare delivery for children with primary ciliary dyskinesia. Symptoms of this pathology in clinical practice vary that is conditioned by genetic heterogeneity of the disease.
A. A. Baranov, L. S. Namazova-Baranova, E. A. Vishneva, L. R. Selimzyanova, O. I. Simonova, E. V. Sereda, N. N. Rozinova, E. N. Tzygina, L. K. Katosova, A. V. Lazareva, Yu. V. Gorinova, O. V. Kustova   +11 more
doaj   +1 more source

PIH1D2 Loss‐of‐Function Directs Ciliary and Cell Cycle Defects Resulting in Left Isomerism With or Without Biliary Atresia

Liver International, Volume 46, Issue 11, November 2026.
ABSTRACT Background & Aims Laterality disorders are rare congenital conditions caused by disruption of left–right embryonic patterning, often associated with ciliary dysfunction. Despite the identification of numerous causative genes, the molecular basis remains unresolved in many patients.
Alina Kurolap, Chofit Chai Gadot, Adel Shalata, Orly Eshach Adiv, Yam Amir, Bar Levy Lando, Florian Stehling, Tova Hershkovitz, Khaled Osman, Clair Habib, Hila Mintz, Ran Steinberg, Amit Hochberg, Uri Hamiel, Adi Mory, Daphna Marom, Sandra von Hardenberg, Amihood Singer, Bernd Auber, Hagit Baris Feldman   +19 more
wiley   +1 more source

Primary Ciliary Dyskinesia: First Health-related Quality of Life Measures for Pediatric Patients [PDF]

, 2016
Rationale: Primary ciliary dyskinesia (PCD) is a rare disease.
Ferkol, Thomas W, Lucas, Jane S, DunnGalvin, Audrey, Knowles, Michael R, Morris, Anjana M., Quittner, Alexandra L., Lucas, Jane S., Morris, Anjana M, Quittner, Alexandra L, Dell, Sharon D, Dell, Sharon D., Leigh, Margaret W, Leigh, Margaret W., Alpern, Adrianne, Galvin, Audrey Dunn, Hogg, Claire, Ferkol, Thomas W., Knowles, Michael R., Behan, Laura   +18 more
core   +1 more source

Serum Response Factor Cooperates With Progesterone Receptor to Regulate Oviductal Smooth Muscle Gene Expression During Preimplantation Embryo Transport

The FASEB Journal, Volume 40, Issue 20, 31 October 2026.
Oviductal smooth muscle contractions are important for preimplantation embryo transport under the regulation of steroid hormone signaling. Deletion of serum response factor (Srf) in progesterone receptor (Pgr)‐expressing cells leads to differential expression of 1670 genes in the mouse oviduct, 306 of which are directly bound by SRF.
Peter F. Lais, Ryan M. Marquardt, San‐Pin Wu, John P. Lydon, Francesco J. DeMayo   +4 more
wiley   +1 more source

Genetics, diagnosis and future treatment strategies for primary ciliary dyskinesia [PDF]

, 2015
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder resulting in chronic oto-sino-pulmonary disease. While PCD is estimated to occur in 1 in 20,000 individuals, fewer than 1,000 patients in the US have a well-established ...
Noone, Peadar G, Mary Leigh Anne Daniels, Peadar G Noone, Daniels, Mary Leigh Anne   +3 more
core   +1 more source

Intermediate‐Phenotype ABCA3 Deficiency Caused by Compound Heterozygous Variants Presenting as Persistent Respiratory Failure and Systemic Hypertension Since Birth in a Term Infant: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT ABCA3 deficiency should be suspected in term infants with persistent respiratory distress from birth. This case highlights how early whole‐exome sequencing established the diagnosis after extensive investigations, identified an intermediate phenotype caused by compound heterozygous variants, and guided targeted multidisciplinary management.
Ammir Abuzahra, Mohamad Abu Mayalah, Mahmoud Abdelrazzaq Abu Mayaleh, Amani Daabes, Rafad Y. Dweik, Abdelrazzaq Abu Mayaleh   +5 more
wiley   +1 more source