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Brachyury promotes extracellular matrix synthesis through transcriptional regulation of Smad3 in nucleus pulposus.

Authors :Xia Y , Wu Y , Gong Y , Yue C , Tao L , Xin T , Shen C , Zhu Y , Shen M , Shen J
Published On :2024 May 1
Journal Article Research Support, Non-U.S. Gov't


Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

Authors :Stenton SL , O'Leary MC , Lemire G , VanNoy GE , DiTroia S , Ganesh VS , Groopman E , O'Heir E , Mangilog B , Osei-Owusu I , Pais LS , Serrano J , Singer-Berk M , Weisburd B , Wilson MW , Austin-Tse C , Abdelhakim M , Althagafi A , Babbi G , Bellazzi R , Bovo S , Carta MG , Casadio R , Coenen PJ , De Paoli F , Floris M , Gajapathy M , Hoehndorf R , Jacobsen JOB , Joseph T , Kamandula A , Katsonis P , Kint C , Lichtarge O , Limongelli I , Lu Y , Magni P , Mamidi TKK , Martelli PL , Mulargia M , Nicora G , Nykamp K , Pejaver V , Peng Y , Pham THC , Podda MS , Rao A , Rizzo E , Saipradeep VG , Savojardo C , Schols P , Shen Y , Sivadasan N , Smedley D , Soru D , Srinivasan R , Sun Y , Sunderam U , Tan W , Tiwari N , Wang X , Wang Y , Williams A , Worthey EA , Yin R , You Y , Zeiberg D , Zucca S , Bakolitsa C , Brenner SE , Fullerton SM , Radivojac P , Rehm HL , O'Donnell-Luria A
Published On :2024 Apr 29
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Assessing contemporary Arctic habitat availability for a woolly mammoth proxy.

Authors :Poquérusse J , Brown CL , Gaillard C , Doughty C , Dalén L , Gallagher AJ , Wooller M , Zimov N , Church GM , Lamm B , Hysolli E
Published On :2024 Apr 29
Journal Article Research Support, U.S. Gov't, Non-P.H.S. Research Support, Non-U.S. Gov't


Enhancing calvarial defects repair with PDGF-BB mimetic peptide hydrogels.

Authors :Wu X , Yan M , Shen J , Xiang Y , Jian K , Pan X , Yuan D , Shi J
Published On :2024 Jun
Journal Article Research Support, Non-U.S. Gov't


Efficacy of Endoscopic Tissue Adhesive in Patients with Gastrointestinal Tumor Bleeding.

Authors :Shen J , Ni L , Zhu C , Jiang C , Zhu W , Bi Y
Published On :2024 Jul
Journal Article


Rare variants in genes coding for components of the terminal pathway of the complement system in preeclampsia.

Authors :Lokki A , Triebwasser M , Daly E , Cohort F , Kurki M , Perola M , Auro K , Salmon J , Java A , Daly M , Atkinson J , Laivuori H , Meri S
Published On :2024 Apr 2
Preprint Journal Article


The landscape of regional missense mutational intolerance quantified from 125,748 exomes.

Authors :Chao KR , Wang L , Panchal R , Liao C , Abderrazzaq H , Ye R , Schultz P , Compitello J , Grant RH , Kosmicki JA , Weisburd B , Phu W , Wilson MW , Laricchia KM , Goodrich JK , Goldstein D , Goldstein JI , Vittal C , Poterba T , Baxter S , Watts NA , Solomonson M , gnomAD Consortium , Tiao G , Rehm HL , Neale BM , Talkowski ME , MacArthur DG , O'Donnell-Luria A , Karczewski KJ , Radivojac P , Daly MJ , Samocha KE
Published On :2024 May 3
Preprint Journal Article


De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

Authors :Chen Y , Dawes R , Kim HC , Stenton SL , Walker S , Ljungdahl A , Lord J , Ganesh VS , Ma J , Martin-Geary AC , Lemire G , D'Souza EN , Dong S , Ellingford JM , Adams DR , Allan K , Bakshi M , Baldwin EE , Berger SI , Bernstein JA , Brown NJ , Burrage LC , Chapman K , Compton AG , Cunningham CA , D'Souza P , Délot EC , Dias KR , Elias ER , Evans CA , Ewans L , Ezell K , Fraser JL , Gallacher L , Genetti CA , Grant CL , Haack T , Kuechler A , Lalani SR , Leitão E , Fevre AL , Leventer RJ , Liebelt JE , Lockhart PJ , Ma AS , Macnamara EF , Maurer TM , Mendez HR , Montgomery SB , Nassogne MC , Neumann S , O'Leary M , Palmer EE , Phillips J , Pitsava G , Pysar R , Rehm HL , Reuter CM , Revencu N , Riess A , Rius R , Rodan L , Roscioli T , Rosenfeld JA , Sachdev R , Simons C , Sisodiya SM , Snell P , Clair L , Stark Z , Tan TY , Tan NB , Temple SE , Thorburn DR , Tifft CJ , Uebergang E , VanNoy GE , Vilain E , Viskochil DH , Wedd L , Wheeler MT , White SM , Wojcik M , Wolfe LA , Wolfenson Z , Xiao C , Zocche D , Rubenstein JL , Markenscoff-Papadimitriou E , Fica SM , Baralle D , Depienne C , MacArthur DG , Howson JM , Sanders SJ , O'Donnell-Luria A , Whiffin N
Published On :2024 Apr 9
Preprint Journal Article


Harnessing Artificial Intelligence to Address Oral Health Disparities.

Authors :Elani HW , Giannobile WV
Published On :2024 Apr 5
Journal Article


Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata.

Authors :Kipnis LM , Breen KM , Koeller DR , Levine AS , Yang Z , Jun H , Tayob N , Stokes SM , Hayes CP , Ghazani AA , Hill SJ , Rana HQ
Published On :2024 May 2
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


For Tuberculosis, Not "To Screen or Not to Screen?" but "Who?" and "How?".

Authors :Farhat MR , Jacobson KR
Published On :2024 Jun 14
Editorial Research Support, N.I.H., Extramural Comment


KMT2E-Related Neurodevelopmental Disorder.

Authors :Adam MP , Bick S , Mirzaa GM , Wallace SE , Amemiya A , Pais L , Rodan L , O'Donnell-Luria A
Published On :1993
Review


Laser therapy decreases oral leukoplakia recurrence and boosts patient comfort: a network meta-analysis and systematic review.

Authors :Luo R , Wang Y , Li R , Ma Y , Chen H , Zhang J , Shen J
Published On :2024 Apr 17
Journal Article Systematic Review Network Meta-Analysis


SadNet: a novel multimodal fusion network for protein-ligand binding affinity prediction.

Authors :Hong Q , Zhou G , Qin Y , Shen J , Li H
Published On :2024 Apr 24
Journal Article


White matter hyperintensities mediate the association between frailty and cognitive impairment in moyamoya disease.

Authors :Du J , Qu C , Xu Z , Liu Z , Lv M , Wang D , Wei W , Duan Y , Shen J
Published On :2024 May
Journal Article