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Articles by Weill Cornell
Lexeo Plans Pivotal Trial of Friedreich Ataxia Gene Therapy as Phase I/II Results Report Out at ACC
NEW ORLEANS – Lexeo Therapeutics expects to launch a pivotal trial of its investigational gene therapy LX2006 for Friedreich ataxia (FA)-related cardiomyopathy in the first half of the year. Investigators reported promising combined results from two Phase I/II trials of LX2006 at the American College of Cardiology's annual meeting Monday, suggesting that the treatment is well tolerated and led to improvements in key markers of cardiac structure and function.
Synthetic nanomachine reveals mechanics of a non‐muscle actinopathy mutation in γ‐actin
Journal Club Synthetic nanomachine reveals mechanics of a non-muscle actinopathy mutation in γ-actin First published: 15 February 2026 view metrics No abstract is available for this article. Filename Description tjp70387-sup-0001-PeerReview.pdf148 KB Peer Review History Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors.
Cytoskeleton Spotlight: Alfred C. Chin
PROFILE Cytoskeleton Spotlight: Alfred C. Chin First published: 05 December 2025 No abstract is available for this article.
Sociocultural Antecedents of HPV Vaccination Completion Among Mothers of Mexican Descent: the Mediating Role of Mother-Daughter Connectedness - Journal of Community Health
Abstract The Human papillomavirus (HPV) is the most common sexually transmitted infection in the US and a leading cause of cervical cancer. Latinas have higher rates of cervical cancer incidence and mortality compared to non-Latina White women. The HPV vaccine is a primary form of prevention recommended for pre-adolescents but, vaccine completion of the two dose vaccine series is low among Latina adolescents.
Genome-wide CRISPR guide RNA design and specificity analysis with GuideScan2 - Genome Biology
We present GuideScan2, a new gRNA design and analysis software that overcomes the limitations of GuideScan and significantly expands its functionality using a novel search algorithm. GuideScan2 uses simulated reverse-prefix trie traversals to enumerate off-targets. This is implemented by preprocessing the entire input genome into a lightweight index based on a compressed Burrows-Wheeler Transform (Fig. 1, “Methods” section, Additional file 1).
The Lipid Droplet Protein DHRS3 Is a Regulator of Melanoma Cell State
Conflicts of Interest R.M.W. is a paid consultant to N-of-One Therapeutics, a subsidiary of Qiagen. R.M.W. receives royalty payments for the use of the casper zebrafish line from Carolina Biologicals. E.J., Y.M., M.V.H., J.H.R., P.L., C.R.G., H.M., and C.P. declare no competing interests. Supporting Information Filename Description pcmr13208-sup-0001-Figures.pdfPDF document, 65.5 MB Figure S1. Figure S2. Figure S3. Figure S4. Figure S5. Figure S6.
PLD3 and PLD4 synthesize S,S-BMP, a key phospholipid enabling lipid degradation in lysosomes
Keywords phospholipid lipid metabolism lysosome gangliosides neurodegeneration Alzheimer’s disease dementia Introduction The degradation of lipids (for instance, from lipoproteins, lipid droplets, or cell membranes) by acid hydrolases is a major function of lysosomes. Lysosomal lipid degradation is thought to occur predominantly in the lysosomal lumen because the delimiting membrane of lysosomes is protected from acid hydrolases by an extensive glycocalyx.
The chemokine Cxcl14 regulates interneuron differentiation in layer I of the somatosensory cortex
Highlights • Activity-dependent Cxcl14 expression delineates developing SBCs in layer I (LI) • Loss of Cxcl14 causes increased intrinsic excitability and neuronal complexity • 5HT3aR.Cxcl14fl/fl mice show abnormal barrel map formation • LI interneurons show decreased network activity in 5HT3aR.Cxcl14fl/fl mice Summary Spontaneous and sensory-evoked activity sculpts developing circuits.
TRIUMPH: phase II trial of rucaparib monotherapy in patients with metastatic hormone-sensitive prostate cancer harboring germline homologous recombination repair gene mutations
Poly(adenosine diphosphate [ADP]-ribose) polymerase (PARP) functions in the DNA repair pathway, specifically in the base excision repair of single-stranded DNA breaks.
Sleep and optic disc edema in spaceflight associated neuro-ocular syndrome (SANS) - Eye
This is a preview of subscription content, to check access. Price excludes VAT (USA) Tax calculation will be finalised during checkout. Instant access to the full article PDF. Rent this article via DeepDyve References Ong J, Tarver W, Brunstetter T, Mader TH, Gibson CR, Mason SS, et al. Spaceflight associated neuro-ocular syndrome: proposed pathogenesis, terrestrial analogues, and emerging countermeasures. Br J Ophthalmol. 2023;107:895–900.
Endoscopic Drainage of Pancreatic Fluid Collections
Keywords Pancreatic fluid collections Interventional EUS Cystogastrostomy Pseudocyst Walled-off necrosis To read this article in full you will need to make a payment Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access One-time access price info For academic or personal research use, select 'Academic and Personal' For corporate R&D use, select 'Corporate R&D Professionals' Subscribers receive full online access to your subscription and archive of back...
Depleting inositol pyrophosphate 5-InsP7 protected the heart against ischemia-reperfusion injury by elevating plasma adiponectin
Adiponectin is an adipocyte-derived circulating protein that exerts cardiovascular and metabolic protection. Due to the futile degradation of endogenous adiponectin and the challenges of exogenous administration, regulatory mechanisms of adiponectin biosynthesis are of significant pharmacological interest.
Latinas in medicine: evaluating and understanding the experience of Latinas in medical education: a cross sectional survey - BMC Medical Education
GG: conception and design of study, acquisition of data, analysis and interpretation of data, drafting of article, and critical revision for important intellectual content. LK: conception and design of study, acquisition of data, analysis and interpretation of data, drafting of article, and critical revision for important intellectual content. MH: analysis and interpretation of data and critical revision for important intellectual content.
Discrepancies in Conflict-of-Interest Disclosures Among Physicians Receiving Compensation for Monoclonal Antibody Drugs - Journal of General Internal Medicine
Abstract Monoclonal antibody drugs are widely used, highly marketed, expensive compounds. Relationships between these drug manufacturers and physicians may increase the potential for bias in relevant studies. The aim of this study is to determine the rate of disclosures among physicians receiving compensations for monoclonal antibody drugs (MAbDs). This is a retrospective, population-based, cross-sectional study.
A stress-sensitive frontostriatal circuit supporting effortful reward-seeking behavior
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The Ratio of Key Metabolic Transcripts Is a Predictive Biomarker of Breast Cancer Metastasis to the Lung
Breast cancer is a disease marked by cellular diversity, and cancer cells from the same primary tumor can colonize multiple metastatic sites. Metastasis is a rare and stochastic process, and because of that it becomes very difficult to predict when, where, and whether a patient diagnosed with breast cancer will develop metastases and which organs will be affected (1).
Characterization and predictive risk scoring of long COVID in a south indian cohort after breakthrough COVID infection; a prospective single centre study | BMC Infectious Diseases | Full Text
Results Among the 414 patients followed up in the study, 51.2% (n = 212) were found to be females and the majority of the patients belonged to 18–39 years of age (45.2%, 187) (Table 1). Diabetes mellitus (23.18%) and hypertension (26.08%) among were found to be the predominant co-morbidities in the study cohort while 49% (n = 204) patients did not report any co-morbidity. Hospitalization during COVID-19 was reported among 5.3% (n = 22) patients.
Laser capture microdissection provides a novel molecular profile of human primary cutaneous melanoma
Our findings validate LCM as a tool to characterize malignant cells from patient-derived primary melanomas. Given that LCM requires a small amount of primary tissue, it has the potential to identify targetable alterations specific to each patient. Gene expression profiles detected based on LCM-derived samples may help guide personalized treatments.
Hidradenitis suppurativa: new insights into disease mechanisms and an evolving treatment landscape
Hidradenitis suppurativa (HS), also known as acne inversa, is a chronic disabling and debilitating inflammatory disease with high unmet medical need.1,2 The estimated prevalence of HS is 1–2% globally;3–5 however, estimates range between 0.05% and 4.10%,6 with variance in data collection methods, ethnicity and geographical location thought to contribute.7,8 The prevalence of HS is likely to be under-reported and further hindered by under-diagnosis.9 Disease onset typically occurs in early...
Removing less during surgery for early lung cancer may be better
Lung cancer patients who lost only a portion of the lobe during surgery had somewhat better lung function than those who lost the entire lobe, a recent study showed.Photo by Guzel Studio/Shutterstock Some patients having surgery for early-stage lung cancer may no longer need to lose an entire lobe of their lung, new research shows.For the trial, nearly 700 patients with early-stage lung cancer were randomly chosen to receive either lobectomy surgery, which removes an entire lobe, or a...
Altered gene expression in excitatory neurons is associated with Alzheimer's disease and its higher incidence in women
1 INTRODUCTION Alzheimer's disease (AD) is a progressive disease where neurons in brain regions involved in thinking, learning, and memory become damaged. In 2021, an estimated 6.2 million Americans 65 years of age and older were living with AD.1 Alzheimer's is a complex physiological disease due to the involvement of many cell types, such as neurons, astrocytes, and microglia.
Clonal replacement sustains long-lived germinal centers primed by respiratory viruses
Mesin L. Ersching J. Victora G.D. Germinal center B cell dynamics. Immunity. 2016; 45: 471-482https://doi.org/10.1016/j.immuni.2016.09.001 Victora G.D. Nussenzweig M.C. Germinal centers. Annu. Rev. Immunol. 2022; 40: 413-442https://doi.org/10.1146/annurev-immunol-120419-022408 B cell responses: cell interaction dynamics and decisions. Cell.
Gabrb3 is required for the functional integration of pyramidal neuron subtypes in the somatosensory cortex
Rubenstein J.L. Merzenich M.M. Model of autism: increased ratio of excitation/inhibition in key neural systems. Genes Brain Behav. 2003; 2: 255-267https://doi.org/10.1034/j.1601-183x.2003.00037.x Chao H.T. Chen H. Samaco R.C. Xue M. Chahrour M. Yoo J. Neul J.L. Gong S. Lu H.C. Heintz N. et al. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. 2010; 468: 263-269https://doi.org/10.1038/nature09582 Frohlich J. Miller M.T. Bird L.M. Garces P. Purtell H.
Non-canonical odor coding in the mosquito
Generation of chemosensory receptor QF2 and Split-QF2 knock-in strains T2A - QF2 gene-sparing stop codon replacement lines were generated using the strategy outlined in Matthews et al., 2019 Matthews B.J. Younger M.A. Vosshall L.B. The ion channel ppk301 controls freshwater egg-laying in the mosquito Aedes aegypti. .
Cellular and molecular mechanisms of plasticity in cancer
Highlights Cellular plasticity is critical for cell state transitions in normal physiology and in cancer. Tissue regeneration and cancer development are accompanied by increased plasticity. High-plasticity cancer cell states promote tumor progression, intratumoral heterogeneity, and resistance to cancer therapy. Targeting plasticity in cancer is a conceptually novel and potentially highly effective therapeutic approach. Cancer cells are plastic – they can assume a wide range of distinct phenotypes.
Highlights • A mouse model to evaluate kinetics and efficacy of the dTAG degron system in vivo • Acute and efficient protein degradation during in utero embryo development • Fine temporal induction and reversibility across embryonic stages and adult tissues • Acute stage-specific depletion reveals a role for NELFB during mouse ZGA Summary Targeted protein degradation methods offer a unique avenue to assess a protein’s function in a variety of model systems.
ORIGINAL ARTICLE Kristina Navrazhina, Kristina Navrazhina Laboratory of Investigative Dermatology, The Rockefeller University, New York, NY, USA Weill Cornell/Rockefeller/Sloan Kettering Tri-Institutional MD-PhD program, New York, NY, USA Contribution: Conceptualization (lead), Data curation (lead), Formal analysis (equal), Investigation (equal), Methodology (equal), Visualization (lead), Writing - original draft (lead) Search for more papers by this author John W. Frew, John W.
Diverse alterations associated with resistance to KRAS(G12C) inhibition - Nature
Abstract Inactive state-selective KRAS(G12C) inhibitors1,2,3,4,5,6,7,8 demonstrate a 30–40% response rate and result in approximately 6-month median progression-free survival in patients with lung cancer9. The genetic basis for resistance to these first-in-class mutant GTPase inhibitors remains under investigation. Here we evaluated matched pre-treatment and post-treatment specimens from 43 patients treated with the KRAS(G12C) inhibitor sotorasib.
Exposure to Estrogen May Protect Women From Alzheimer's
Press release Weill Cornell Medical College November 5, 2021 (AP Photo/David Zalubowski) The drop in estrogen levels that occurs with menopause brings declines in the volumes of “gray matter,” the cellular matter of the brain, in key brain regions that are also affected in Alzheimer’s disease.
Cooperation between melanoma cell states promotes metastasis through heterotypic cluster formation
Highlights • Cluster formation is a pro-metastatic phenotype associated with the INV state • PRO and INV cooperate in metastasis via heterotypic circulating tumor cell clusters • TFAP2 modulates PRO versus INV state, clustering, and metastasis Summary Melanomas can have multiple coexisting cell states, including proliferative (PRO) versus invasive (INV) subpopulations that represent a “go or grow” trade-off; however, how these populations interact is poorly understood.
Dietary fructose improves intestinal cell survival and nutrient absorption - Nature
Abstract Fructose consumption is linked to the rising incidence of obesity and cancer, which are two of the leading causes of morbidity and mortality globally1,2. Dietary fructose metabolism begins at the epithelium of the small intestine, where fructose is transported by glucose transporter type 5 (GLUT5; encoded by SLC2A5) and phosphorylated by ketohexokinase to form fructose 1-phosphate, which accumulates to high levels in the cell3,4.
The inflammatory proteome of hidradenitis suppurativa skin is more expansive than that of psoriasis vulgaris
Background Although hidradenitis suppurativa (HS) shares some transcriptomic and cellular infiltrate features with psoriasis, their skin proteome remains unknown. Objective To define and compare inflammatory protein biomarkers of HS and psoriasis skin. Methods We assessed 92 inflammatory biomarkers in HS (n = 13), psoriasis (n = 11), and control skin (n = 11) using Olink high-throughput proteomics. We also correlated HS skin and blood biomarkers using proteomics and RNA sequencing.
Large‐scale serum analysis identifies unique systemic biomarkers in psoriasis and hidradenitis suppurativa
ORIGINAL ARTICLE K. Navrazhina, Laboratory for Investigative Dermatology, The Rockefeller University, New York, NY, USA Weill Cornell/Rockefeller, Sloan Kettering Tri-Institutional MD-PhD program, New York, NY, USA K Navrazhina and Y Renert-Yuval contributed equally.
High inflammation in HS extends to perilesional skin, and can be subdivided by LCN2 expression
This paper is only available as a PDF. To read, Please Download here. Abstract: Background Hidradenitis Suppurativa (HS) is a chronic inflammatory disease with diverse manifestations ranging from nodules and abscesses to draining tunnels. Whether the underlying inflammation from lesions extends to relatively healthy-appearing adjacent perilesional and distant nonlesional skin has not been systematically evaluated.
Naturally occurring three-way junctions can be repurposed as genetically encoded RNA-based sensors
Highlights • Naturally occurring RNA three-way junctions are engineered to undergo inducible folding • Three-way junction-based metabolite sensors are constructed using multiple aptamers • The three-way junction sensor platform is a versatile approach for making RNA sensors • Three-way junction sensors detect SAM levels in live mammalian cells Summary Small molecules can be imaged in living cells using biosensors composed of RNA. However, RNA-based devices are difficult to design.
Dipeptidyl peptidase 9 sets a threshold for CARD8 inflammasome formation by sequestering its active C-terminal fragment
Highlights • cryo-EM reveals a CARD8-DPP9 ternary complex that can sequester CARD8CT • Binding to DPP9 is necessary for proper regulation of the CARD8 inflammasome • DPP9 complex assembly is a checkpoint for CARD8 downstream of the proteasome • Both N-terminal degradation and disruption of the ternary complex can activate CARD8 Summary CARD8 detects intracellular danger signals and forms a caspase-1 activating inflammasome.
First-generation physician-scientists are under-represented and need better support - Nature Medicine
First-generation students, whose parents do not have baccalaureate degrees, are less likely to apply to MD-PhD programs than to MD programs, which has led to a worrying lack of diversity among physician-scientists. Physician-scientists occupy a unique and important space that bridges scientific research and medical practice, and many have expressed concern that physician-scientists are an endangered species, with a dwindling pool of interested future researchers1,2,3,4.
Toll receptors remodel epithelia by directing planar-polarized Src and PI3K activity
Highlights • Toll receptors generate planar-polarized patterns of Src and PI3K activity • Src and PI3K are required for localized myosin contractility and convergent extension • Src kinases promote Toll-2 phosphorylation and Toll-2/PI3K-reg complex formation • Toll-2 phosphorylation is necessary for planar polarity and convergent extension Summary Toll-like receptors are essential for animal development and survival, with conserved roles in innate immunity, tissue patterning, and cell behavior.
Diversity, Equity, Inclusion, and Justice#LatinasInMedicine: Using the Hashtag to Build Community in Medicine
Skip Nav Destination Article navigation Research Article| April 15 2021
H3K27ac bookmarking promotes rapid post-mitotic activation of the pluripotent stem cell program without impacting 3D chromatin reorganization
Abramo K. Valton A.-L. Venev S.V. Ozadam H. Fox A.N. Dekker J. A chromosome folding intermediate at the condensin-to-cohesin transition during telophase. Nat. Cell Biol. 2019; 21: 1393-1402 Alipour E. Marko J.F. Self-organization of domain structures by DNA-loop-extruding enzymes. Nucleic Acids Res. 2012; 40: 11202-11212 Anders S. Huber W. Differential expression analysis for sequence count data. Genome Biol. 2010; 11: R106 Anders S. Pyl P.T. Huber W.
Post-transcriptional regulation of antiviral gene expression by N6-methyladenosine
Highlights • During the type I IFN response, many IFN-stimulated genes (ISGs) are modified by m6A • m6A promotes the expression of a subset of these ISGs by enhancing their translation • m6A augments the antiviral effects of the type I interferon response Summary Type I interferons (IFNs) induce hundreds of IFN-stimulated genes (ISGs) in response to viral infection.
Creatine-mediated crosstalk between adipocytes and cancer cells regulates obesity-driven breast cancer
Highlights • Gatm in peritumoral adipocytes promotes breast cancer progression in obesity • Acsbg1 in breast cancer cells promotes breast cancer progression in obesity • Creatine is a metabolite linking these pathways in obesity-dependent tumor growth • Acsbg1 and Gatm in breast cancer patients are linked to disease grade and outcome Summary Obesity is a major risk factor for adverse outcomes in breast cancer; however, the underlying molecular mechanisms have not been elucidated.
Epithelialized Tunnels are a Source of Inflammation in Hidradenitis Suppurativa
This paper is only available as a PDF. To read, Please Download here. Key Messages: - Epithelialized tunnels in HS recapitulate the morphology, function and the pro-inflammatory milieu of the overlying epidermis. - The HS tunnels are involved in IL-17 signaling, and contribute to disease pathogenesis. - Clinically, HS tunnels decrease in size and draining with IL-17RA blockade.
Non invasive Prenatal Testing (NIPT) for common aneuploidies and beyond
Egbe AC. Birth defects in the newborn population: race and ethnicity. Pediatr Neonatol. 2015; 56: 183 Graham JM Sanchez-Lara PA. Smith’s Recognizable Patterns of Human Deformation. 4th ed. Elsevier, Philadelphia2016 Alfirevic Z. Navaratnam K. Mujezinovic F. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev. 2017; 9CD003252 Reddy UM Mennuti MT.
Suppressing Nucleotide Exchange to Inhibit KRAS-Mutant Tumors
In the Spotlight Yulei Zhao, Jenny Y. Xue and Piro Lito DOI: 10.1158/2159-8290.CD-20-1331 Published January 2021 This article requires a subscription to view the full text. You may purchase access to this article or login to access your subscription using the links below. Abstract Summary: Guanine nucleotide exchange factors (GEF) control the rate-limiting step of physiologic RAS activation.
Stimulant Use Disorders in the United States-Is Another Epidemic on The Horizon?
Along with the worsening coronavirus disease 2019 (COVID-19) pandemic, the US is simultaneously witnessing an insidious rise in drug-associated overdoses, now reaching a record high level.1 While the opioid epidemic has been at the forefront of addiction treatment, policy, and research in the recent past,2 the steady rise in stimulant use and associated deaths from drugs such as cocaine and methamphetamine portend an extremely concerning future.
Dynamic 3D Chromatin Reorganization during Establishment and Maintenance of Pluripotency
Higher-order chromatin structure is tightly linked to gene expression and therefore cell identity. In recent years, the chromatin landscape of pluripotent stem cells has become better characterized, and unique features at various architectural levels have been revealed. However, the mechanisms that govern establishment and maintenance of these topological characteristics and the temporal and functional relationships with transcriptional or epigenetic features are still areas of intense study.
A blinded, multirater and multi-institutional study evaluating the Objective Structured Assessment of Technical Skills (OSATS) tool in dermatology education
To the Editor: Current resident evaluation systems are based on subjective assessments without clear delineation of the surgical ability that defines proficiency and thus remain highly variable between evaluators and programs. The Objective Structured Assessment of Technical Skills (OSATS) tool is a validated measure of technical proficiency among trainees in multiple specialties. 1 Alam M. Nodzenski M. Yoo S. Poon E. Bolotin E.
Targeting KRAS(G12C): From Inhibitory Mechanism to Modulation of Antitumor Effects in Patients
Amendola C.R. Mahaffey J.P. Parker S.J. Ahearn I.M. Chen W.C. Zhou M. Court H. Shi J. Mendoza S.L. Morten M.J. et al. KRAS4A directly regulates hexokinase 1. Nature. 2019; 576: 482-486 Amodio V. Yaeger R. Arcella P. Cancelliere C. Lamba S. Lorenzato A. Arena S. Montone M. Mussolin B. Bian Y. et al. EGFR Blockade Reverts Resistance to KRASG12C Inhibition in Colorectal Cancer. Cancer Discov. 2020; 10: 1129-1139 Bigenzahn J.W. Collu G.M. Kartnig F. Pieraks M. Vladimer G.I. Heinz L.X. Sedlyarov V. Schischlik F. Fauster A.
Activation of the CARD8 Inflammasome Requires a Disordered Region
Highlights • CARD8 has an N-terminal disordered region that is required for its activation • DPP8/9 inhibitors induce the degradation of disordered and misfolded proteins • CARD8 uses its disordered region to sense a perturbation induced by DPP8/9 inhibition Summary Several cytosolic pattern-recognition receptors (PRRs) form multiprotein complexes called canonical inflammasomes in response to intracellular danger signals.
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