Results 21 to 30 of about 15,472 (207)

Ciliary Membrane Lipid Homeostasis in Health and Disease. [PDF]

Adv Sci (Weinh)
This review systematically delineates the distinct lipid landscapes of ciliary membranes, including the spatial organization of phosphoinositides, cholesterol, and sphingolipids. It elucidates how these lipids orchestrate ciliogenesis, signal transduction, and membrane dynamics in cilia beating, and highlights how their dysregulation drives ...
Huang Z, Liu YY, Sun H, Liu P.
europepmc   +2 more sources

Case Report Of Short Rib Polydactyly Syndrome

Journal of Clinical and Biomedical Sciences, 2019
Short rib polydactyly syndrome (SRPS) is a group of skeletal dysplasias manifested by short-limb dwarfism, short ribs with thoracic dysplasia and polydactyly. SRPS is an inherited autosomal-recessive disorder with dif-ferent prenatal sonographic
Anshul Singh, Anil Kumar Sakalecha, Rajeswari Rajeswari, Yashas Ullas L   +3 more
doaj   +1 more source

Two Cases of Preaxial Polydactyly of the Foot: Important Implications for Plastic Surgeons

Plastic and Reconstructive Surgery, Global Open, 2021
Summary:. Although polydactyly is quite common in general, preaxial polydactyly of the foot is rare (0.4 per 10,000 patients) and specifically associated with certain congenital abnormalities and syndromes, which can include craniosynostosis, corpus ...
Max L. Silverstein, BS, Leah W. Burke, MD, Donald R. Laub, Jr., MD   +2 more
doaj   +1 more source

Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

Molecular Genetics & Genomic Medicine, 2019
Background Polydactyly is a common genetic limb deformity characterized by the presence of extra fingers or toes. This anomaly may occur in isolation (nonsyndromic) or as part of a syndrome.
Muhammad Umair, Naveed Wasif, Alia M. Albalawi, Khushnooda Ramzan, Majid Alfadhel, Wasim Ahmad, Sulman Basit   +6 more
doaj   +1 more source

Polydactyly in the Tyrrhenian wall lizard (Podarcis tiliguerta)

Acta Herpetologica, 2013
Polydactyly is a fairly frequent phenomenon in tetrapod populations, but it is relatively rare in reptiles. Here we report the occurrence of polydactyly in a random sample of the Tyrrhenian wall lizard (Podarcis tiliguerta) from Sardinia. In the locality
Antigoni Kaliontzopoulou, Daniele Salvi, Verónica Gomes, João Maia, Panagiotis Kaliontzopoulos   +4 more
doaj   +1 more source

An alternative treatment for type B Ulnar Polydactyly [PDF]

, 2009
Includes summary.Includes bibliographical references (leaves 47-50).Rudimentary ulnar polydactyly is one of the most common congenital hand anomalies. These are conventionally treated by suture ligation in the neonatal period or by formal excision, when ...
Maree, Michelle Nerine
core   +1 more source

Unusual congenital polydactyly in mini-pigs from the breeding group of the Institute of Cytology and Genetics (Novosibirsk, Russia)

Вавиловский журнал генетики и селекции, 2021
The article describes a new phenomenon in the breeding group of mini-pigs at the Institute of Cytology and Genetics (ICG, Novosibirsk): polydactyly (extra digits), which is unusual because the additional digits are situated at the lateral surface of legs
S. V. Nikitin, S. P. Knyazev, V. A. Trifonov, A. A. Proskuryakova, Yu. D. Shmidt, K. S. Shatokhin, V. I. Zaporozhets, D. S. Bashur, E. V. Korshunova, V. I. Ermolaev   +9 more
doaj   +1 more source

Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly

, 2023
Polydactyly is the most common limb malformation that occurs in 1.6–10.6 per one thousand live births, with incidence varying with ancestry. The underlying gene has been identified for many of the ~100 syndromes that include polydactyly.
Rebecca Buchert, Kifayat Ullah, Liaqat, Khurram, Muhammad Sharif Hasni, Muhammad Javed Khan, Acharya, Anushree, Ullah, Asmat, Ullah, Kifayat, Najumuddin, Bharadwaj, Thashi, Khan, Hammal, Susana Peralta, Leal, Suzanne M., Ahmed, Sohail, Suzanne M. Leal, Ahmad, Wasim, Peralta, Susana, Tobias B. Haack, Buchert, Rebecca, Hasni, Muhammad Sharif, Anushree Acharya, Ali, Hamid, Isabelle Schrauwen, Khurram Liaqat, Hammal Khan, Khan, Muhammad Javed, Bilal, Muhammad, Muhammad Bilal, Thashi Bharadwaj, Asmat Ullah, Haack, Tobias B., Hamid Ali, Wasim Ahmad, Schrauwen, Isabelle, Sohail Ahmed   +34 more
core   +1 more source

BARDET-BIEDL SYNDROME – CASE PRESENTATION [PDF]

Romanian Journal of Pediatrics, 2015
Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight ...
Sorin Ioan Iurian, Heleen Arts, Han Brunner, Dana Fintina   +3 more
doaj   +1 more source

Preaxial polydactyly of the foot in an adult patient diagnosed by X-ray after a trauma

Radiology Case Reports, 2023
Polydactyly, or hyperdactyly, is a frequent malformation, with a reported incidence between 0.37 and 1.2 per 1000 live births. Most cases encountered in medical practice are sporadic cases, usually presenting one-sided manifestations.
Anna Russo, MD, Vittorio Patanè, MD, Vittorio Viglione, MD, Alessandro Pinto, MD, Mariarita Cristiano, MD, Rosita Comune, MD, Luigi Gallo, MD, Alfonso Reginelli, Prof.   +7 more
doaj   +1 more source