Results 221 to 230 of about 333,176 (311)

Non-HLA antibody trajectories may predict kidney transplant outcomes. [PDF]

Front Immunol
Rajalingam R, Sigdel TK, Maruthamuthu S, Raghav PK, Laszik ZG, Da Gente G, Kong D, Shoji J, Ray B.   +8 more
europepmc   +1 more source

The Longitudinal Effect of APOL1 Risk Alleles on Sickle Cell Anemia‐Associated Kidney Function

American Journal of Hematology, EarlyView.
ABSTRACT Progressive kidney injury is a major cause of morbidity and mortality in sickle cell anemia (SCA). The high risk APOL1 G1/G2 variants contribute to the development of kidney disease in individuals of African ancestry, including those with SCA.
Sara R. Rashkin, Guolian Kang, Clifford M. Takemoto, Mitchell J. Weiss, Kenneth I. Ataga, Santosh L. Saraf, Jeffrey Lebensburger, Rima S. Zahr   +7 more
wiley   +1 more source

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

Genetic screening in kidney transplant candidates. [PDF]

Clin Kidney J
Le Moal P, Knebelmann B, Hummel A, Gribouval O, Anglicheau D, Legendre C, Morinière V, Heidet L, Dorval G, Antignac C, Servais A.   +10 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Kaposi's Sarcoma in a Kidney Transplant Recipient: A Case Report on Paclitaxel Response. [PDF]

Case Rep Oncol
Ghabi H, Trabelsi M, Zheni A, Tlili S, Rais L, Ben Hmida F, Mami I, Zouaghi MK.   +7 more
europepmc   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Kidney transplant biopsy adequacy and outcomes in children - is it time for change? [PDF]

BMC Nephrol
Marokakis S, Cui C, Moghimi A, Graf N, Coughlan F, Kim S, Durkan AM.   +6 more
europepmc   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source