Results 181 to 190 of about 78,073 (260)

Collection of autologous CD34+ hematopoietic progenitor cells (HPC) in multiple myeloma: CD34 + cell collection yield in relation to molecular subtype, karyotype, and FISH results. [PDF]

PLoS One
Rjoop A, Perez I, Al Aruri DO, AlBarakat MM, van Rhee F, Drobena G.   +5 more
europepmc   +1 more source

Challenges in Diagnosing Central Adrenal Insufficiency in Children: Cortisol‐Stimulating Tests are Safe and Often Required

Clinical Endocrinology, EarlyView.
ABSTRACT Introduction The accuracy and safety of cortisol‐stimulating tests (CSTs) for assessing hypothalamic–pituitary–adrenal (HPA) axis integrity, including the diagnosis of central adrenal insufficiency (CAI), in children remain uncertain. Although these tests can simultaneously evaluate cortisol and growth hormone secretion, the present study ...
Mariana Peduti Halah, Ana Carolina Maia Teodózio, Davi Casale Aragon, Paula Conde Lamparelli Elias, Margaret de Castro, Ayrton Custodio Moreira, Sonir Rauber Antonini   +6 more
wiley   +1 more source

Mapping the current landscape of Klinefelter Syndrome registries: a scoping review. [PDF]

BMJ Open
Stephenson F, Morris A, Arulkkumaran N, Lorenzo A, Mehta S, Cotton A, Yap T.   +6 more
europepmc   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Karyotype-based evaluation of ovarian reserve before ovarian tissue cryopreservation in Turner syndrome patients. [PDF]

J Ovarian Res
Du J, Cheng J, Ruan X, Gu M, Jin F, Wu Y, Jin J, Wang Z, Li Y, Li Y, Jiang L, Zhang M, Liu A, Mueck AO.   +13 more
europepmc   +1 more source

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, EarlyView.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source

Additional data of cryptic species of the blind mole rat (<i>Nannospalax</i>, Rodentia) (2n = 52, NF = 84) from the Eastern Anatolia Region of Türkiye. [PDF]

Comp Cytogenet
Yürümez G.
europepmc   +1 more source

Establishment of Human Formative Pluripotent Stem Cell‐Like Cells Exhibiting Amniotic Differentiation Potentials

Cell Proliferation, EarlyView.
The hfPSC‐LCs could be established from naïve hESCs, conventional hESCs, hiPSCs, and human blastocysts. The hfPSC‐LCs hold robust capacity for three germ layers, hPGCLCs, and hALPCs. ABSTRACT Human embryos undergo pivotal morphogenetic remodelling shortly after implantation. The understanding of this crucial stage is severely impeded by the scarcity of
Xiaoxiao Wang, Qizhi Wang, Yu Wu, Chen Gu, Mingfei Li, Yong Fan, Xiangjin Kang, Lei Li, Zheng Gao, Mingyan Hei, Jianqiao Liu, Lei Li   +11 more
wiley   +1 more source

Tracking karyotype dynamics by flow cytometry reveals de novo chromosome duplications in laboratory cultures of Macrostomum lignano. [PDF]

Biol Open
Mouton S, Glazenburg L, Berezikov E.
europepmc   +1 more source

Oxidative Stress Drives Cell Cycle Stalling, Apoptosis and Metabolic Suppression in Cystatin B Deficient EPM1 Patient iPSCs

Cell Proliferation, EarlyView.
CSTB deficient EPM1 iPS cells manifest increased lysosomal activity and oxidative stress, which lead to DNA damage, cell cycle defects and increased apoptosis. As a protective response, metabolism is suppressed. Image created by BioRender https://BioRender.com/t44oc6h.
Shekhar Singh, Lidiia Plotnikova, Teemu Tiukuvaara, Reetta Kälviäinen, Riikka H. Hämäläinen   +4 more
wiley   +1 more source