Results 111 to 120 of about 16,795 (294)

A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report

Clinical Case Reports, 2022
We report a Chinese patient with JATD presenting a mild skeletal phenotype and with renal insufficiency as the initial symptom of the disease. A novel homozygous c.2789C>T (p.S930L) variant in the WDR60 gene was identified.
Xiangzhong Zhao, Aihua Sui, Li Cui, Zhiying Liu, Ruixiao Zhang, Yue Han, Leping Shao   +6 more
doaj   +1 more source

CRISPR‐Cas9‐Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

genesis, Volume 64, Issue 1, February 2026.
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu, Hui Wang, Liyuan Chen, Xiaoxia Wu, Zhiyong Xu, Qingfa Huang, Hu Zhang, Xiushu Cao, Xinyuan Liang, Xingjian Zhong, Caiqun Luo   +10 more
wiley   +1 more source

A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells [PDF]

, 2018
The two centrioles of the centrosome in quiescent cells are inherently asymmetric structures that differ in age, morphology and function. How these asymmetric properties are established and maintained during quiescence remains unknown. Here, we show that
Betleja, Ewelina, Cheng, Tao, Mahjoub, Moe R, Nanjundappa, Rashmi   +3 more
core   +2 more sources

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Slovenska pediatrija, 2022
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy caused by mutations in the PKHD1 gene, which encodes the membrane protein fibrocystin/polyductin.
Anja Fon Gabršček, Rina Rus
doaj   +1 more source

The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity

Translational Science of Rare Diseases, 2019
Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the cerebellum and brainstem identified as the “molar tooth sign” on brain MRI.
M. Parisi
semanticscholar   +1 more source

Rab8a and Rab8b are essential for several apical transport pathways but insufficient for ciliogenesis [PDF]

, 2013
The small GTP-binding protein Rab8 is known to play an essential role in intracellular transport and cilia formation. We have previously demonstrated that Rab8a is required for localising apical markers in various organisms.
A. Harada, H. Hagiwara, M. Kunii, M. Yuzaki, R. Harada, R. Mizuguchi, S. Matsuda, T. Iwano, T. Sato, Y. Jung, Y. Yoshihara   +10 more
core   +2 more sources

Alström syndrome: current perspectives

The Application of Clinical Genetics, 2015
María Álvarez-Satta, Sheila Castro-Sánchez, Diana Valverde Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain Abstract: Alström syndrome (ALMS)
Álvarez-Satta M, Castro-Sánchez S, Valverde D   +2 more
doaj  

Autonomous and non-cell autonomous etiology of ciliopathy associated structural birth defects [PDF]

, 2023
Richard Francis, Jovenal T. San Agustin, Heather L. Szabo‐Rogers, Cheng Cui, Julie A. Jonassen, Thibaut Eguether, John A. Follit, Cecilia Lo, Gregory J. Pazour   +8 more
openalex   +1 more source

A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies

Nature Genetics, 2017
Primary cilia organize Hedgehog signaling and shape embryonic development, and their dysregulation is the unifying cause of ciliopathies. We conducted a functional genomic screen for Hedgehog signaling by engineering antibiotic-based selection of ...
David K. Breslow, S. Hoogendoorn, A. Kopp, D. Morgens, Brandon K. Vu, Margaret C. Kennedy, K. Han, Amy Li, Gaelen T. Hess, M. Bassik, James K. Chen, M. Nachury   +11 more
semanticscholar   +1 more source

A Rare Case of Prenatal Short‐Rib Thoracic Dysplasia 11 Subtype With Compound Heterozygous Variants in the DYNC2I2 Gene: Presenting Polydactyly and Shortened Limbs

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT DYNC2I2‐related Short‐Rib Thoracic Dysplasia 11 can present prenatally with prominent limb shortening and polydactyly as the primary ultrasound findings, while classic thoracic abnormalities may be subtle. This case highlights the condition's clinical heterogeneity and underscores the importance of genetic testing for accurate diagnosis and ...
Zhihui Wang, Heqin Guan, Ximei Li, Jielan Liao, Yong Pan, Xueqin Dong, Xutao Hong   +6 more
wiley   +1 more source