Results 51 to 60 of about 930 (131)

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

Monogenic Causes Identified in 23.68% of Children with Steroid Resistant Nephrotic Syndrome: A Single-Centre Study

Kidney Diseases, 2023
Introduction: Steroid resistant nephrotic syndrome (SRNS) is the second most common cause of end-stage kidney disease in children, mostly associated with focal segmental glomerulosclerosis (FSGS).
Luyan Zhang, Fei Zhao, Guixia Ding, Ying Chen, Sanlong Zhao, Qiuxia Chen, Yugen Sha, Ruochen Che, Songming Huang, Bixia Zheng, Aihua Zhang   +10 more
doaj   +1 more source

Genetic Interaction of Thm2 and Thm1 Shapes Postnatal Craniofacial Bone

Journal of Developmental Biology, 2022
Ciliopathies are genetic syndromes that link skeletal dysplasias to the dysfunction of primary cilia. Primary cilia are sensory organelles synthesized by intraflagellar transport (IFT)—A and B complexes, which traffic protein cargo along a microtubular ...
Erin E. Bumann, Portia Hahn Leat, Henry H. Wang, Brittany M. Hufft-Martinez, Wei Wang, Pamela V. Tran   +5 more
doaj   +1 more source

RNA sequencing resolves novel DYNC2H1 variants causing short‐rib thoracic dysplasia type 3: Case report

Molecular Genetics &Genomic Medicine, Volume 11, Issue 10, October 2023., 2023
We present a male who presented with post‐axial polydactyly of all four limbs, a significantly small chest with a pectus excavatum and anterior flaring of the ribs. Clinical genetic testing revealed a likely pathogenic frameshift variant and an intronic variant of uncertain significance (VUS) in DYNC2H1.
Aren E. Marshall, Stella K. MacDonald, Yijing Liang, Madeline Couse, Care4Rare Canada Consortium, Kym M. Boycott, Julie Richer, Kristin D. Kernohan   +7 more
wiley   +1 more source

Sonic hedgehog signaling directs patterned cell remodeling during cranial neural tube closure

eLife, 2020
Neural tube closure defects are a major cause of infant mortality, with exencephaly accounting for nearly one-third of cases. However, the mechanisms of cranial neural tube closure are not well understood.
Eric R Brooks, Mohammed Tarek Islam, Kathryn V Anderson, Jennifer A Zallen   +3 more
doaj   +1 more source

The genetic communication and interaction between chronic kidney diseases and frailty

Clinical and Translational Discovery, Volume 3, Issue 4, August 2023., 2023
The heritability of kidney affects the risk of chronic kidney disease and frailty. Inflammageing‐related metabolites, including tryptophan, taurine, carnitine and sphingolipids, link chronic kidney disease and frailty. Circadian rhythm disorders may play a key role in the interaction between chronic kidney disease and frailty.
Xiaojun Wang, Xuchao Gu, Yuxin Zhang, Zhijun Bao   +3 more
wiley   +1 more source

Additional file 6 of Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes

, 2022
Additional file 6: Fig. S3. Different from TTC12 expression that restricted to spermatocytes and respiratory ciliated cells (upper), TTC21B was universally expressed in most of tissues but possess relative lower expression levels in spermatocytes and ...
Xinyan Zhang (655654), Weijia Zeng (9724088), Feifei Wang (195514), Xiangyu Zhou (309509), Weicheng Chen (9441520), Libing Shen (403624), Yuan Zhang (41832)   +6 more
core   +1 more source

Displasia torácica asfixiante [PDF]

, 2021
Resumen El síndrome de Jeune o displasia torácica asfixiante es una enfermedad genética de herencia autosómica recesiva, que se caracteriza por presentar un fenotipo característico. El diagnóstico es clínico y radiológico.
Croche Santander,Borja, Márquez Mira,Pedro Luis, García Barrionuevo,Claudia, López Díaz,Román Jesús   +3 more
core   +1 more source

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses [PDF]

, 2021
Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities.
Traberg, Rasa, Ohashi, H., Hyodo, H, Nilsson, Daniel, Lindstrand, A, Chitayat, David, Hyodo, H., Traberg, R, Taylan, F., Girisha, KM, Wirta, V, Batkovskyte, Dominyka, Hammarsjo, A, Lin, AE, Lagerstedt-Robinson, Kristina, Horemuzova, E, Basel, Donald, Hammarsjö, A., Wirta, Valtteri, Nordgren, A, Chung, BHY, Ohashi-Fukuda, Naoko, Voss, Ulrika, Girisha, Katta M., Conner, P, Beleza-Meireles, Ana, Traberg, R., Nishimura, G, Basel, D., Lagerstedt-Robinson, K., Horemuzova, Eva, Hyodo, Hironobu, Grigelioniene, G., Beleza-Meireles, A, Nilsson, D., Magnusson, Mans, Nordgren, Ann, Taylan, Fulya, Hammarsjo, Anna, Stranneheim, H, Ohashi-Fukuda, N., Ohashi, H, Bartocci, Marco, Nishimura, Gen, Nayak, Shalini S., Magnusson, M., Hon-Yin Chung, Brian, Stranneheim, H., Korņejeva, L., Bartocci, M, Voss, U., Anderlid, B. -M, Girisha, K. M., Nordgren, A., Lagerstedt-Robinson, K, Ohashi-Fukuda, N, Lin, A. E., Batkovskyte, D, Voss, U, Conner, P., Chitayat, D., Beleza-Meireles, A., Moosa, Shahida, Grigelioniene, G, Pettersson, M, Chitayat, D, Eisfeldt, J, Anderlid, BM, Anderlid, Britt-Marie, Basel, D, Moosa, S., Ohashi, Hirofumi, Eisfeldt, J., Horemuzova, E., Wirta, Valtteri,, Lin, Angela E., Kornejeva, L, Magnusson, M, Handa, A, Bartocci, M., Handa, A., Nayak, S. S., Pettersson, M., Stranneheim, Henrik, Grigelioniene, Giedre, Taylan, F, Nilsson, D, Chung, B. H. -Y, Lindstrand, Anna, Batkovskyte, D., Lindstrand, A., Eisfeldt, Jesper, Pettersson, Maria, Handa, Atsuhiko, Conner, Peter, Korņejeva, Liene, Nishimura, G., Nayak, SS, Moosa, S, Conner, P,, Bartocci, M,, Pettersson, M,, Batkovskyte, D,, Anderlid, B-M, Valtteri Wirta, Maria Pettersson, Dominyka Batkovskyte, Jesper Eisfeldt, Måns Magnusson, Peter Conner, Giedre Grigelioniene, Atsuhiko Handa, Angela E. Lin, Rasa Traberg, Shahida Moosa, Daniel Nilsson, Marco Bartocci, Hironobu Hyodo, Brian Hon-Yin Chung, Naoko Ohashi-Fukuda, Liene Korņejeva, Henrik Stranneheim, Ann Nordgren, Fulya Taylan, Gen Nishimura, David Chitayat, Anna Hammarsjö, Britt-Marie Anderlid, Anna Lindstrand, Shalini S. Nayak, Donald Basel, Ana Beleza-Meireles, Hirofumi Ohashi, Katta M. Girisha, Kristina Lagerstedt-Robinson, Eva Horemuzova, Ulrika Voss   +136 more
core   +1 more source

Supplementary Material for: Monogenic Causes Identified in 23.68% of Children with Steroid Resistant Nephrotic Syndrome: A Single-Centre Study

, 2023
Introduction: Steroid resistant nephrotic syndrome (SRNS) is the second most common cause of end-stage kidney disease in children, mostly associated with focal segmental glomerulosclerosis (FSGS).
Ding G. (3630280), Chen Y. (3114699), Sha Y. (17332498), Zhao S. (3237696), Chen Q. (3335055), Che R. (17332501), Zhang A. (4154740), Huang S. (3356537), Zheng B. (4407112), Zhao F. (4147282), Zhang L. (3112731)   +10 more
core   +3 more sources