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Shared pathobiology identifies AMPK as a therapeutic target for obesity and autosomal dominant polycystic kidney disease.

Authors :Iliuta IA , Song X , Pickel L , Haghighi A , Retnakaran R , Scholey J , Sung HK , Steinberg GR , Pei Y
Published On :2022
Journal Article Review


Addition of Germline Testing to Tumor-Only Sequencing Improves Detection of Pathogenic Germline Variants in Men With Advanced Prostate Cancer.

Authors :Berchuck JE , Boiarsky D , Silver R , Sunkara R , McClure HM , Tsai HK , Siegmund S , Tewari AK , Nowak JA , Lindeman NI , Rana HQ , Choudhury AD , Pomerantz MM , Freedman ML , Van Allen EM , Taplin ME
Published On :2022 Aug
Clinical Trial Journal Article Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S. Research Support, Non-U.S. Gov't



A neural stem cell paradigm of pediatric hydrocephalus.

Authors :Duy PQ , Rakic P , Alper SL , Robert SM , Kundishora AJ , Butler WE , Walsh CA , Sestan N , Geschwind DH , Jin SC , Kahle KT
Published On :2023 Apr 4
Journal Article Research Support, N.I.H., Extramural


A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.

Authors :Katler QS , Stepien KM , Paull N , Patel S , Adams M , Balci MC , Berry GT , Bosch AM , DeLaO A , Demirbas D , Edman J , Ficicioglu C , Goff M , Hacker S , Knerr I , Lancaster K , Li H , Mendelsohn BA , Nichols B , de Rezende Pinto WBV , Rocha JC , Rubio-Gozalbo ME , Saad-Naguib M , Scholl-Buergi S , Searcy S , de Souza PVS , Wittenauer A , Fridovich-Keil JL
Published On :2022 Nov
Journal Article Research Support, N.I.H., Extramural


An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.

Authors :Schwartz A , Manning DK , Koeller DR , Chittenden A , Isidro RA , Hayes CP , Abraamyan F , Manam MD , Dwan M , Barletta JA , Sholl LM , Yurgelun MB , Rana HQ , Garber JE , Ghazani AA
Published On :2022
Journal Article


Response of human periodontal ligament to orthodontic force using superb microvascular imaging.

Authors :Wu C , Liu X , Zhang H , Zhang Q , Ding S , Jin S , Zheng X , Fu C , Han Q , Shen J , Xu J , Ye N , Jiang F , Wu T
Published On :2022 Nov
Journal Article


Synthesis and application of chitosan thiourea derivatives as chiral stationary phases in HPLC.

Authors :Deng H , Wu X , Zhang L , Shen J , Qiao Y , Wang X , Bai C , Zheng T , Okamoto Y
Published On :2022 Nov 15
Journal Article


The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.

Authors :Huang Y , Lemire G , Briere LC , Liu F , Wessels MW , Wang X , Osmond M , Kanca O , Lu S , High FA , Walker MA , Rodan LH , Undiagnosed Diseases Network , Care4Rare Canada Consortium , Kernohan KD , Sweetser DA , Boycott KM , Bellen HJ
Published On :2022 Oct 6
Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural


Dl-3-n-butylphthalide prevents chronic restraint stress-induced depression-like behaviors and cognitive impairment via regulating CaMKII/CREB/BDNF signaling pathway in hippocampus.

Authors :Shen J , Yang L , Wei W
Published On :2022 Oct 5
Journal Article Randomized Controlled Trial, Veterinary Research Support, Non-U.S. Gov't


Galactose epimerase deficiency: lessons from the GalNet registry.

Authors :Derks B , Demirbas D , Arantes RR , Banford S , Burlina AB , Cabrera A , Chiesa A , Couce ML , Dionisi-Vici C , Gautschi M , Grünewald S , Morava E , Möslinger D , Scholl-Bürgi S , Skouma A , Stepien KM , Timson DJ , Berry GT , Rubio-Gozalbo ME
Published On :2022 Sep 2
Journal Article Observational Study Research Support, Non-U.S. Gov't


Improving medical student recruitment into neurosurgery through teaching reform.

Authors :Shen J , Yuan L , Ge R , Shao X , Jiang X
Published On :2022 Sep 2
Journal Article Randomized Controlled Trial


Call for action: expanding global access to hereditary cancer genetic testing.

Authors :Bychkovsky B , Rana HQ , Ademuyiwa F , Plichta J , Anderson K , Nogueira-Rodrigues A , Santa-Maria CA , Coffman LG , Marquez C , Das A , Taghian A , Koeller DR , Sandoval RL , Park BH , Dizon DS
Published On :2022 Sep
Journal Article


helixCAM: A platform for programmable cellular assembly in bacteria and human cells.

Authors :Chao G , Wannier TM , Gutierrez C , Borders NC , Appleton E , Chadha A , Lebar T , Church GM
Published On :2022 Sep 15
Journal Article Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S. Research Support, Non-U.S. Gov't


Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa.

Authors :Atkinson EG , Dalvie S , Pichkar Y , Kalungi A , Majara L , Stevenson A , Abebe T , Akena D , Alemayehu M , Ashaba FK , Atwoli L , Baker M , Chibnik LB , Creanza N , Daly MJ , Fekadu A , Gelaye B , Gichuru S , Injera WE , James R , Kariuki SM , Kigen G , Koen N , Koenen KC , Koenig Z , Kwobah E , Kyebuzibwa J , Musinguzi H , Mwema RM , Neale BM , Newman CP , Newton CRJC , Ongeri L , Ramachandran S , Ramesar R , Shiferaw W , Stein DJ , Stroud RE , Teferra S , Yohannes MT , Zingela Z , Martin AR , NeuroGAP-Psychosis Study Team
Published On :2022 Sep 1
Journal Article Research Support, N.I.H., Extramural