Results 141 to 150 of about 19,235 (265)

First Observation of Compound Heterozygosity for Hb S/Hb Lepore-Hollandia in India. [PDF]

Indian J Hematol Blood Transfus, 2022
Mun A, Kumar R, Tiwari S, Uikey R, Thakur P, Mishra S, Chakma T, Shanmugam R.   +7 more
europepmc   +1 more source

NuSAP Safeguards Centriole Integrity to Mediate CEP57‐CEP152 Torus Recruitment for Proper Engagement

Advanced Science, EarlyView.
This study reveals a novel role for the microtubule stabilizer NuSAP at centrioles. NuSAP depletion destabilizes the centriole's tubulin structure, causing premature disengagement, PCM defects, and mis‐localization of the CEP57‐CEP63‐CEP152 complex. By reinforcing centriole architecture, NuSAP enables early CEP57 loading and initiates a newly proposed ...
Shiyu Zhang, Zemin Jiang, Qiaoyun Yang, Hong Zheng, Minghao Wang, Chennianci Zhu, Lih‐Wen Deng, Karen Carmelina Crasta, Yih‐Cherng Liou   +8 more
wiley   +1 more source

Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1-further expansion of the phenotypic spectrum. [PDF]

Cold Spring Harb Mol Case Stud, 2023
Mikhail KA, VanSickle E, Rossetti LZ.
europepmc   +1 more source

An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1 [PDF]

, 2007
François‐Yves Dupradeau, Serge Pissard, Marie-Pierre Coulhon, Estelle Cadet, Karine Foulon, Christine Fourcade, Michel Goossens, David A. Case, Jacques Rochette   +8 more
openalex   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism

Advanced Science, EarlyView.
The study demonstrated that connexin43 (Cx43) knockout caused arrhythmic phenotype and decreased proline content in vitro and in vivo. Mechanistically, Cx43 interacts with the amino acid transporter SNAT2 (sodium‐dependent neutral amino acid transporter), and its deficiency disrupts proline transport and metabolism.
Hangying Ying, Hangping Fan, Yunhe Wang, Ruhong Jiang, Dongsheng Cai, Hui Cheng, Hao Wang, Chenyang Jiang, Ping Liang   +8 more
wiley   +1 more source

Compound heterozygosity for hemoglobin S and hemoglobin E in a family of Proto-Australoid origin: a case report. [PDF]

J Med Case Rep, 2021
Basumatary N, Baruah D, Sarma PK, Sarmah J.   +3 more
europepmc   +1 more source

The Regulatory Role of Iron Transporter SLC39A13 in Liver Fibrosis

Advanced Science, EarlyView.
SLC39A13/ZIP13, a newly discovered intracellular iron transporter, delivers iron to the ER/Golgi to catalyze procollagen hydroxylation during collagen maturation. Here, we systematically characterize the cell type‐specific functions of ZIP13 across distinct hepatic cell populations, and identify hepatic stellate cell‐specific ZIP13 as a promising and ...
Shanshan Guo, Yalin Wang, Binyu Lu, Yu Zhang, David M. Frazer, Bing Zhou   +5 more
wiley   +1 more source

Weill-Marchesani syndrome 4 caused by compound heterozygosity of a maternal submicroscopic deletion and a paternal nonsense variant in the ADAMTS17 gene: A case report. [PDF]

Am J Ophthalmol Case Rep, 2022
Yu X, Kline B, Han Y, Gao Y, Fan Z, Shi Y.   +5 more
europepmc   +1 more source

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report [PDF]

, 2013
Irene Bottillo, Marco Castori, Carmelilia De Bernardo, Romano Fabbri, Barbara Grammatico, Nicoletta Preziosi, Giovanna Sforzolini Scassellati, Evelina Silvestri, Antonella Spagnuolo, Luigi Laino, Paola Grammatico   +10 more
openalex   +1 more source