Results 51 to 60 of about 1,113,934 (309)

Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +1 more source

Structural implications of BK polyomavirus sequence variations in the major viral capsid protein Vp1 and large T-antigen: a computational study

mSphere
BK polyomavirus (BKPyV) is a double-stranded DNA virus causing nephropathy, hemorrhagic cystitis, and urothelial cancer in transplant patients. The BKPyV-encoded capsid protein Vp1 and large T-antigen (LTag) are key targets of neutralizing antibodies and
Janani Durairaj, Océane M. Follonier, Karoline Leuzinger, Leila T. Alexander, Maud Wilhelm, Joana Pereira, Caroline A. Hillenbrand, Fabian H. Weissbach, Torsten Schwede, Hans H. Hirsch   +9 more
doaj   +1 more source

Establishing an Apheresis Medicine Program in a Resource‐Constrained Setting: A 5‐Year Experience From Lagos, Nigeria

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Establishing a comprehensive apheresis medicine program in a resource‐constrained setting presents significant structural, financial, and logistical challenges. Despite the growing clinical importance of apheresis services globally, published experience from sub‐Saharan Africa remains sparse.
Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Rasheed A. Balogun   +4 more
wiley   +1 more source

GENETIC DIVERSITY OF SOME BREAD WHEAT GENOTYPES USING RAPD TECHNIQUE [PDF]

مجلة الأنبار للعلوم الزراعية
A Group of five bread wheat genotypes that were newly introduced to Iraq were assessed for their genetic similarity using the random amplified polymorphic DNA (RAPD) technique. The genomic DNA of the genotypes was amplified with five RAPD primers.
F. T. F. Alkhamisi, M. H. Al-Issawi
doaj   +1 more source

Transference of the Term "Genotype" [PDF]

Science, 1911
n ...
Bather, F. A., Calman, W. T.
openaire   +3 more sources

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source

Social cognition in Williams Syndrome: genotype/phenotype insights from partial deletion patients [PDF]

, 2012
Identifying genotype/phenotype relations in human social cognition has been enhanced by the study of Williams syndrome (WS). Indeed, individuals with WS present with a particularly strong social drive, and researchers have sought to link deleted genes in
Kay eMetcalfe, Metcalfe, K., Annette Karmiloff-Smith, Senju, Atsushi, Peter Turnpenny, Wu, Racehl, Longhi, Elena, Happé, Francesca, Kay Metcalfe, Sansbury, F., Hannah Broadbent, Longhi, E, Metcalfe, Kay, Farran, EK, D'Souza, D, Happé, F., Turnpenny, Peter, Annette eKarmiloff-Smith, Wu, Rachel, Elena eLonghi, Longhi, E., Sansbury, Francis, Francesca eHappé, D'Souza, Dean, Farran, Emily, Elena Longhi, Tassabehji, M., Emily K. Farran, Turnpenny, P., Metcalfe, K, Tassabehji, May, Karmiloff-Smith, A, Dean eD'Souza, Broadbent, H., Broadbent, Hannah, Tassabehji, M, Atsushi Senju, Broadbent, H, Francis eSansbury, Rachel Wu, Wu, R, Peter eTurnpenny, May eTassabehji, Happé, F, Farran, E.K., Atsushi eSenju, Francis Sansbury, Turnpenny, P, Dean D’Souza, Francesca Happé, Senju, A, Hannah eBroadbent, Rachel eWu, Sansbury, F, May Tassabehji, Karmiloff-Smith, Annette, Farran, Emily K   +56 more
core   +1 more source

From mice to humans—divergent strategies for intestinal homeostasis and regeneration

FEBS Letters, EarlyView.
Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa, Shinya Sugimoto, Toshiro Sato   +2 more
wiley   +1 more source

Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis

FEBS Letters, EarlyView.
Hypervirulent KL49 A. baumannii's capsular polysaccharide contains the nonulosonic acid 8‐epi‐Leg5,7Ac2, synthesized by epimerization via ElaA, ElaB, and ElaC. Crystal structures of ElaA, ElaB, and ElaC reveal their role in CMP‐Leg5,7Ac2 synthesis and regioselective C8 epimerization.
Woo Cheol Lee, Junho Jeong, Chae Yeong Lee, Hyunjoon Cho, Man Hwan Oh, Je Chul Lee, Jee‐Young Lee, Yangmee Kim   +7 more
wiley   +1 more source

Design and analysis strategies for robust microbiome ageing research

FEBS Letters, EarlyView.
The gut microbiome changes with age and associates with age‐related morbidity and mortality, establishing it as a potential biomarker and intervention target for ageing. Realising this potential requires methodological rigour, yet distinguishing biological signals from methodological artefacts remains challenging across cohorts. This review provides an
Mark Olenik, İsmail Güderer, Yi Wang, Tayyaba Alvi, Prasoon Pandey, Handan Melike Dönertaş   +5 more
wiley   +1 more source