Digital Commons Network^™

Ribosomal Stress In The Pathogenesis And Treatment Of T-Cell Acute Lymphoblastic Leukemia, Kimberly Bridget Johansson

Arts & Sciences Graduate Student Theses and Dissertations

T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematologic malignancy in which activating mutations in the Notch pathway are thought to contribute to transformation, in part, through activation of c-Myc. Increased expression of c-Myc induces oncogenic stress that can lead to apoptosis through the Mdm2-p53 tumor suppressor pathway. Since the great majority of T-ALL cases maintain wildtype MDM2 and TP53, we hypothesized that T-ALL cells are selectively sensitive to MDM2 inhibition. Treatment with idasanutlin, an MDM2 inhibitor, although only inducing modest apoptosis in T-ALL cells, resulted in a significant upregulation of pro-apoptotic BH3 domain genes BAX and BBC3. This prompted …

Unraveling Hydrologic And Hydrochemical Processes Based On Long-Term Concentration–Discharge Analysis In The Green Lake 4 Catchment, Colorado Front Range, Usa, Fengjing Liu

Michigan Tech Publications

Concentration–discharge (C-Q) relationships were analyzed over decadal, annual, and seasonal timescales from water years 1982 to 2020 to understand hydrologic and hydrochemical processes in the Green Lake 4 catchment, Green Lakes Valley, Colorado Front Range. Geogenic solutes, along with the magnitude of stable isotopes, were dominated by a strong (p < .05) C-Q power law (C = aQ^b, where a and b are constants from the curve fitting, with b usually termed the b-coefficient) and consistent patterns over various timescales. The b-coefficients of geogenic solutes were negative, suggesting that those solutes primarily originated from groundwater with higher concentrations and diluted by shallow source waters with lower …

Inside 'N Out: Etv2 Specification Of Hemangiogenic Lineages From Flk1+ Mesoderm, Dereck Antonio Shakeel Alleyne

Arts & Sciences Graduate Student Theses and Dissertations

The cardiovascular system is generated by mesodermal progenitors that give rise to endothelial, hematopoietic and muscle (smooth muscle and cardiomyocyte) lineages. Although vascular endothelial growth factor (VEGF), its receptor, FLK1/KDR and the transcription factor ETV2 are critically required for hemangiogenic specification, Flk1 and Etv2 expression has been observed in other mesodermal derivatives. During gastrulation, mesodermal progenitors are specified to contribute to the cardiovascular system; however, the early divergence of hemangiogenic and muscle progenitors, and their shared marker expression, complicates identification of common mesoderm progenitor populations contributing to both lineages. In this dissertation, I demonstrate how Flk1+ and Etv2+ lineage relationships …

The Relationship Between Smartphone Screen Time Duration And Individual Chronotype: A Systematic Literature Review, Diego Sergio Giasia Lumbantobing, Thalia Altamilano Pramudya

Jurnal Epidemiologi Kesehatan Indonesia

The rapid increase in smartphone use over the past decade led to prolonged screen time across age groups, particularly during nighttime hours. Exposure to artificial light and pre-sleep digital activities was associated with circadian rhythm disruption and alterations in individual chronotype. This systematic literature review aimed to synthesize empirical evidence on the relationship between smartphone screen time duration and individual chronotype across all age groups and to identify key moderating factors influencing this association. The review was conducted in accordance with PRISMA 2020 guidelines. Literature searches were performed in PubMed, Scopus, and ScienceDirect for studies published between 2015 and 2025. …

The Relationship Between Functional Etiology Of Ancle Injuries And Return-To-Play Efficiency Among Tennis Players, Mustafa Muhammad Ali Farhan

Modern Sport

The present study seeks to determine the role of etiology in rehabilitating injured players and the efficiency of return-to-play. The researcher hypothesizes that there are statistically significant differences in the functional efficiency of the ankle joint between injured and non-injured players. Additionally, it is hypothesized that there is a statistically significant relationship between the functional etiology of ankle joint injury and return to play efficiency among tennis players. The research population and sample include tennis players who are registered in the Middle Euphrates sports clubs and who have suffered an injury in the ankle joint, whether during the current sports …

Effectiveness Of Special Compound Exercises In Developing Speed-Strength And Explosive Power In The Long Jump Among The Students, Amjad H. Mohammed

Modern Sport

This research aims to determine the effectiveness of compound exercises in developing explosive power and force speed in the long jump among students. The research problem lies in the limited use of compound exercises that develop explosive power and force speed during training. The researcher used an experimental design with two groups (experimental and control). The sample included 24 students from Najaf Preparatory School for Mathematical Sciences, who were randomly divided into two groups (experimental and control). Each group consisted of 12 students, representing 49% of the research population. The experimental group underwent compound exercises, which were conducted over eight …

Bridging The Gap: A Mixed-Methods Study Exploring The Relationships Between Student-Teacher Demographic Mismatch And Students’ Perceptions Of Fairness, Inclusion, And Achievement, Nicholas Nahrwold

Theses and Dissertations

This study examines the relationships between student-teacher demographic mismatch and students’ perceptions of fairness, inclusion, and achievement. The purpose of this research was to determine how race, gender, and SES mismatch between students and teachers is related to their feelings of belonging and academic outcomes. A mixed-methods study was conducted involving a combination of survey data, student performance records, and student interviews. Results from the study indicated a relationship between student-teacher gender match and GPA, student-teacher racial match and GPA, and student-teacher racial match and attendance outcomes. Although not statistically significant, the data collected also highlighted trends between student-teacher SES …

Examining Predictors For Surgical Site Infection Following Abdominal Hysterectomy Among Women In New York, Nicole Henry

Walden Dissertations and Doctoral Studies

Surgical site infections (SSIs) remain one of the most frequent and preventable complications following abdominal hysterectomy. Existing literature has focused on clinical and procedural risk factors, while less is known about how social conditions shape surgical outcomes. This gap is especially concerning for women in New York State (NYS) where differences in income, marital status, primary payer, rurality, and county-level food insecurity may influence postoperative outcomes and subsequent care. The socioecological model provided the foundation for this retrospective cohort study by examining how social drivers of health (SDoH) are associated with SSI incidence following abdominal hysterectomy, and whether food insecurity …

Phenol–Chloroform Dna Extraction For Dna Amplification From Personal Items, Aditya Rahman Ernanto, Dinda Amaliyatul Khasanah, Yunita Aldirahayu, Rizki Setiyaningrum, Arya Iswara

Makara Journal of Science

This study examined the feasibility of extracting DNA from various personal items using the phenol–chloroform–isoamyl alcohol (PCIA) method. A towel, collared shirt, toothbrush, shower puff, comb, hair tie, and buccal swabs were analyzed. The quality of the DNA extraction, along with DNA concentration, purity, and suitability for multiplex PCR amplification, were evaluated. The shower puff exhibited the highest DNA concentration (68.35 ng/µL), whereas the collared shirt yielded the lowest (26.43 ng/µL). All samples exhibited good DNA purity (A260 nm/A280 nm ranging from 1.827 to 1.985), emphasizing the potential of this method for forensic analysis. Factors influencing DNA concentration included material …

Pre-Operative Antiplatelet Therapy Is Associated With Increased Risk Of Periprosthetic Joint Infection Following Total Shoulder Arthroplasty, Muhammad Hamza Ilyas, Mohammad Daher, Viraj Deshpande, Adam Lindsay, Joseph A. Abboud, Hafiz F. Kassam

Rothman Institute Papers

Background Antiplatelet therapy is widely prescribed for the prevention and management of cardiovascular disease and for mitigation of thromboembolic risk. However, its impact on post-operative periprosthetic joint infection (PJI) following total shoulder arthroplasty (TSA) remains poorly defined.MethodsA retrospective cohort study was conducted using the TriNetX US Research Network. Propensity score matching was performed to balance demographics, body mass index, and Charlson Comorbidity Index variables. The primary outcome was the incidence of PJI at 90 days, 6 months, and 1 year. Secondary outcomes included post-operative medical and surgical complications. Comparative risk was quantified using risk ratios with 95% confidence intervals. Subgroup …

The Relationship Of Concussion And Alcohol Use: An Investigation Into Intervening Cognitive Mechanisms, Alexi Cranford

Dissertations and Doctoral Documents, University of Nebraska-Lincoln, 2023–

Traumatic brain injury (TBI) and alcohol use are common and pervasive issues in society today. Alcohol use is frequently linked with brain injury even in its mildest form, concussion, also known as mild traumatic brain injury (mTBI). The brain’s reward system has been shown to be involved in alcohol and substance use behaviors, and a neural basis has been demonstrated to underlie reactivity to alcohol cues. Learning theories such as classical and operant conditioning can also help conceptualize how these relationships develop. Reward sensitivity and executive functioning (particularly decision-making skills) are cognitive processes that may moderate the relationship between brain …

Effect Of Novel Antimicrobial Compounds On Fungal And Bacterial Pathogens, Megan Wilderman

Honors Program: Senior Projects (Public)

Antimicrobial resistance is a growing concern in medicine¹ leading to a need for the development of novel compounds. Two compounds were tested in this study, 2-hydroxyethylhydrazine (HEH) and para-nitrophenyl-isocyanide (NPIC). HEH targets phosphatidylcholine (PC) production², and NPIC targets mitochondrial function³. Choline (Cho) is a compound that bypasses the inhibition of HEH through the Kennedy pathway.² Two-fold serial dilutions were conducted in 96-well plates to test the sensitivity of different bacteria to HEH and fungi to HEH and NPIC in different media types. A choline condition was also included in the HEH dilutions to test …

Gene-Agnostic Therapeutic Strategies For Inherited Retinal Diseases: Neuroprotection And Immunomodulation, Lucas W. Rowe, S. Patricia Becerra, Robert E. Maclaren, Robert L. Avery, Charles C. Wykoff, Allen C. Ho, Carl D. Regillo, Dean Eliott, Andrew Osborne, Katie M. Binley, Thomas A. Ciulla

Wills Eye Hospital Papers

Background/Objectives: Inherited retinal diseases (IRDs) represent a genetically heterogeneous group of disorders caused by mutations in over 280 genes with more than 3100 identified variants. While gene-specific replacement therapies have achieved landmark success with voretigene neparvovec (Luxturna) for biallelic RPE65-associated retinal dystrophy, developing individual therapies for each genetic subtype remains impractical. This review examines gene-agnostic therapeutic approaches utilizing neuroprotection and immunomodulation that target common pathophysiological mechanisms shared across multiple IRD genotypes. Methods: We reviewed the literature on neuroprotective and immunomodulatory gene therapy strategies for IRDs, focusing on neurotrophic factors and complement system modulation. Results: Neuroprotective approaches delivering neurotrophic factors—including pigment …

Carboxypeptidase O Expression In Ku812 Basophil Cells Decreases Upon Degranulation, Etien Balorda

Honors Theses

Basophils are leukocytes that mediate inflammatory responses through the exocytosis of granules containing enzymes and inflammatory mediators. Carboxypeptidase O (CPO) is a protease with Cterminal acidic amino acid specificity and is expressed in basophils. CPO expression and localization were assessed in KU812 basophil cells via Western blotting and immunocytochemistry. CPO expression decreased upon degranulation and is localized to cytosolic puncta. These data suggest that CPO may be localized in basophil granules and released upon degranulation.

Teacher Bias And Elementary Student Disciplinary Outcomes, Madeline A. Griffitt

Graduate Theses, Dissertations, and Capstones

The discipline of students has long been an issue in schools. Children and teenagers are just that, and they will misbehave. However, the discipline gap clearly indicates that responses to misbehavior are different for different students (Lorenzetti & Johnson, 2023; Santiago-Rosario et al., 2021). Black students are disciplined more frequently and more severely than any of their peers (Kupchik & Ward, 2014; Welsh & Rodriguez, 2024). This study investigates what, if any, relationship exists between a teacher’s race, gender, age, and bias score (as measured by Project Implicit’s (n.d.) single category race implicit bias test) and the number of referrals …

An Interpretable Hybrid Deep And Reinforcement Learning Paradigm For Glioma Prognosis, Renuga Devi M Ms

Theses and Dissertations

Brain tumors are highly aggressive and lethal types of cancer, particularly gliomas. These cancerous growths show complicated pathophysiological behaviours and with poor prognosis despite therapeutic advances. Due to their biological differences and infiltrating growth, as well as overlapping radiological characteristics, they pose great difficulty in diagnosis, grading, and survival prediction. Artificial intelligence technology, which includes machine learning , deep learning, and reinforcement learning has developed into a new paradigm for the automation of brain tumor diagnostics and personalized treatment. The main goal of this study is to create an integrated AI-based framework that can perform brain tumor segmentation, grading and …

Development Of Deep Fused Neural Architecture For Ancient Tamil Palm-Leaf Manuscript Recognition, Hariharan P Mr

Theses and Dissertations

Digitizing Tamil palm-leaf manuscripts is important for education, communication, and the preservation of cultural heritage. The complex structure of the Tamil script, the wide range of handwriting styles, and the degradation seen in ancient Tamil palm-leaf manuscripts make these texts very difficult to read and understand. Digital Image Processing (DIP), document analysis techniques, and traditional Optical Character Recognition (OCR) are unable to handle noise, background interference, faded ink, and limited labelled data, motivating the need for robust, effective Deep Learning (DL)- based solutions.

As a prerequisite to understanding and designing effective recognition systems for ancient manuscripts, this thesis first examines …

Exploring The Lived Experiences Of African American Women In Counseling For Body Dysmorphia, Sitonja Valenzuela

Walden Dissertations and Doctoral Studies

African American women may experience body dysmorphia differently due to cultural, racial, and societal influences that shape their body perceptions and counseling experiences. Guided by a Heideggerian theoretical foundation, this hermeneutic phenomenological study aimed to explore how African American women experience receiving counseling for body dysmorphia in the United States. The guiding research question was: How do African American women with body dysmorphia experience receiving help in counseling? Eight African American women participated in in-depth, semi-structured interviews, and data analytic procedures were analyzed using the hermeneutic circle. Key findings revealed body dysmorphia as a persistent, embodied experience shaped by racialized …

New Distributional Record Of Dacus Persicus (Diptera: Tephritidae), A Biocontrol Agent Of Calotropis Procera (Apocynaceae), From Rahim Yar Khan, Punjab, Pakistan, Muhammad Adnan Bodlah, Imran Bodlah, Aleena Kanwal, Alishbah Mohsin, Ayesha Younas, Muhammad Tariq Siddique, Hafiz Muhammad Zia Ullah Ghazali, Muhammad Salman Yousafzai

Journal of Bioresource Management

The tephritid species Dacus persicus Hendel (Diptera: Tephritidae) exhibits strict host specificity to Calotropis species and is known as a destructive seed feeder of Calotropis procera. During field surveys, D. persicus larval stages were obtained from infested fruits of C. procera whereas adults were collected through sweep net sampling. This study documents the occurrence of D. persicus from southern district of Punjab, thereby extending its known distribution within the province beyond previous records from northern Punjab. Adult’s specimens were reared from field collected fruits and net-sweeping. Adults were identified based on detailed morphological examination of external characters and female …

Evaluation Of Pinhole Castration Techniques Compare With Traditional Method For Castration In Rabbits, Wakash Oad, Faiz Muhammad Khand, Habibullah Janyaro, Muhammad Mohsen Rahimoon, Muhammad Ramzan, Dilpat Rai Menghwar, Benazir Sahito

Journal of Bioresource Management

Castration is a routine surgical intervention used to sterilize animals. Among the different conventional methods, the pinhole castration provides offer significant advantages. This study was conducted on 12 healthy male domestic rabbits at Shaheed Benazir Bhutto University of Veterinary and Animal Sciences, Sakrand, to evaluate the physiological impacts of traditional versus pinhole castration techniques. The rabbits were randomly divided into group A and group B with six rabbits per group. Key parameters included preoperative vital signs, intraoperative monitoring at 5, 10, and 15 minutes, intra- and postoperative complications, serum cortisol levels (preoperative, 24 hours, 5 and 10 days post-surgery) and …

Enterotoxaemia In Goats: Prevalence, Etiology, Risk Factors, And Therapeutic Approaches: A Comprehensive Review, Muhammad Mohsen, Jam Kashif Zaman, Amjad Hussain Mirani, Nazeer Hussain Kalhoro, Benazir Sahito

Journal of Bioresource Management

Enterotoxaemia remains one of the most severe and rapidly fatal diseases affecting goats, mainly caused by Clostridium perfringens types C and D. Despite widespread vaccination practices, the disease continues to produce significant health and economic losses, particularly in intensive and semi-intensive goat production systems. This review summarizes the current understanding of enterotoxaemia, focusing on its etiology, pathogenesis, epidemiology, risk factors, diagnostic approaches, and updated therapeutic and preventive strategies. C. perfringens overgrows in the intestinal lumen under favorable conditions such as sudden dietary changes, high-energy feeding, or stress-related microbial imbalance. The toxins produced especially epsilon and beta induce intestinal necrosis, vascular …

Recovery Of Bioenergy From Industrial Wastewater Using Microbial Fuel Cell, Syed Wamiq Ali, Ghulam Mujtaba, Manzoor Ahmed Sanjrani, Falak Shad

Journal of Bioresource Management

Water problems and Energy demands are increasing particularly in developing countries. Researchers are looking for sustainable technologies that can address increasing energy and environmental concerns. Major reasons behind those emerging concerns are industrialization and rapid development. There is need of sustainable technology which can solve wastewater issues and fulfill energy demand. One of the emerging technologies that have been studied comprehensively is Microbial Fuel Cell (MFC). It is a bio-electrochemical conversion technology that converts organic substrate into electrical energy. Chemical Oxygen Demand (COD) is removed as a result of microbial metabolism of organic substrate. Even through technical and economic aspects …

The Rider (2026-03-30), Daniela Chapa-Reyes

The Rider Archives

Vol. 11, No. 24

Status Of Soils In Protected Areas With Different Management Objectives In Lowland Rainforest, Southwest Nigeria, Bolanle Lisa Olajiire-Ajayi, Adeniyi Sulaiman Gbadegesin, Omotosho Ayodele Ogidan

Journal of Bioresource Management

Understanding soil properties is fundamental to sustaining the ecological integrity of protected forest ecosystems. This study examined the influence of two management categories; Strict Nature Reserve (SN) and Natural Park (NP) on soil physicochemical properties within the lowland rainforest of southwestern Nigeria. Fourteen composite soil samples, six from SN and eight from NP, were analyzed for texture, bulk density (BD), pH, organic carbon (OC), total nitrogen (TN), available phosphorus (AP), exchangeable bases (Ca²⁺, Mg²⁺, K⁺, Na⁺), and cation exchange capacity (CEC); base saturation (BS) was also determined. Both management categories exhibited sandy loam to loamy sand textures, typical of gneissic …

Pathogenic Variants In The Cohesin Loader Subunit Mau2 Underlie A Distinct Cornelia De Lange Syndrome Subtype., Ilaria Parenti, Alina Hesters, Marta Gil-Salvador, Laura Duffy, Deniz Kanber, Jasmin Beygo, Jennifer Kerkhof, Laura Steenpaß, Elsa Leitão, Julia Woestefeld, Philip M. Boone, Emeline M. Kao, Lama Alabdi, Hesham M. Aldhalaan, Fowzan S. Alkuraya, Muneera J. Alshammari, Stylianos E. Antonarakis, Donald Basel, Kevin Cassinari, Laurana De Polli Cellin, Amanda R. Clause, Alexander Augusto De Lima Jorge, Andréa De Castro Leal, Stephan C. Collins, Benjamin Durand, Juliane Eckhold, Mais O. Hashem, Parul Jayakar, Arif O. Khan, Kohji Kato, Regina Kubica, Gholson J. Lyon, Elaine Marchi, Julie Mccarrier, Lara K. Kimmig, Seiji Mizuno, Gael Nicolas, Yosuke Nishio, Tomoo Ogi, Juan Pié, Jordyn Prell, Beatriz Puisac, Feliciano J. Ramos, Emmanuelle Ranza, Claire Redin, Eric T. Rush, Shinji Saitoh, Hanan E. Shamseldin, Susan Starling, Esteban Astiazaran-Symonds, Sara H. Eltahir, Alma Kuechler, Bekim Sadikovic, Binnaz Yalcin, Kerstin S. Wendt, Frank J. Kaiser

Manuscripts, Articles, Book Chapters and Other Papers

The role of the cohesin complex depends on the cohesin loader proteins NIPBL and MAU2. While NIPBL variants are a major cause of Cornelia de Lange Syndrome (CdLS), the role of MAU2 in disease is unclear. We describe 18 individuals carrying 15 heterozygous MAU2 variants and demonstrate pathogenicity through functional analyses. In-frame MAU2 variants predominantly impair NIPBL-MAU2 interaction, whereas truncating variants cause MAU2 haploinsufficiency and lead to NIPBL reduction. Most individuals exhibit a DNA methylation profile compatible with the CdLS episignature. We also describe two MAU2-specific episignatures that reflect variant-dependent molecular consequences. Affected individuals display a wide range of phenotypes, …

Morphological Characteristics Of The Mediophyceae Diatom Lampriscus Cf. Shadboltianus Var. Crenulatus Collected From Gili Meno, Indonesia, Arief Rachman, Riani Widiarti, Setiarti Sukotjo, Mark Wells

Makara Journal of Science

Diatoms are the most common and abundant microalgae group in seawater, with an estimated 200 genera and 200,000 species categorized into three distinct taxonomic classes: Mediophyceae, Bacillariophyceae, and Coscinodiscophyceae. This study describes the morphological characteristics of Lampriscus GM052022, a diatom belonging to the Mediophyceae family, which was collected from Gili Matra, Lombok, Indonesia. Analysis using light microscopy (LM) and electron microscopy (EM) showed that the morphological characteristics of the Lampriscus GM052022 specimen are similar to those of Lampriscus shadboltianus var. crenulatus due to the distinct crenulation lines on the frustule, which differentiate this variation from Lampriscus shadboltianus. However, the …

In Vitro And In Silico Analysis Of The Antibacterial Activity Of Bioactive Compounds Extracted From Pineapple Peel, Wafa Mohammad Sadik, Iman Tajer Abdullah, Lana Abed Alnajar

Makara Journal of Science

Antibiotic resistance is a critical global challenge that requires the discovery of alternative therapeutic agents. Plants -derived compounds, such as those found in Ananas comosus (pineapple)peel, offer promising antibacterial potential. This study aimed to evaluate the antibacterial activity of pineapple peel extract using both in vitro and in silico approaches. Ethanolic extracts of pineapple peel were fractionated using silica gel chromatography, and the resulting fractions were analyzed by GC-MS. Antibacterial activity was tested against Gram-positive and Gram-negative pathogens using the agar well diffusion method, and the inhibition zones were recorded. Molecular docking was performed to assess the interaction of identified …

Phytochemistry And Pharmacological Activities Of Sphagneticola Trilobata: A Systematic Review With Perspectives For Drug Discovery, Sonali Dnyaneshwar Labhade, Suraj Kamadi, Pawan Nandkishor Karwa, Ritesh Prakash Bhole, Harshad Sunil Kapare, Sohan Satyanarayan Chitlange

Makara Journal of Science

Sphagneticola trilobata (L.) Pruski is a medicinal plant widely used in traditional medicine for its anti-inflammatory, antimicrobial, antioxidant, hepatoprotective, wound healing, and CNS depressant effects. Despite its broad pharmacolo-gical potential, clinical application is limited due to a lack of mechanistic understanding, standardization, and clinical validation. This review aims to provide a comprehensive overview of the phytochemical composition, pharmacological activities, and therapeutic potential of S. trilobata, while highlighting research gaps and suggesting future directions for clinical translation. A systematic review of scientific literature, ethnobotanical sources, and pharmacological studies was conducted, focusing on phytochemical analysis, biological activity, toxicity, and potential applications …

Arriving With The Five Senses: Resilient Whole Being In The Classroom, Mitra Emad

Teaching Online Pedagogical Repository

Using a simple sensory arrival exercise to welcome and orient students to the learning environment encourages a whole being wellbeing approach to learning. Moving through each of the five senses as a way to fully arrive “in class” promotes self-regulation and engagement. In online environments, this exercise gives students an opportunity to settle into a familiar space, as well as to engage with that familiarity in ways that “render the familiar strange,” enhancing curiosity and opening up engagement with the course materials and learning experiences that follow.

Multiplex Functional Assessment Of Variant Effect In The Retinal Transcription Factor Crx, James Lewis Shepherdson

Arts & Sciences Graduate Student Theses and Dissertations

The transcription factor Cone-Rod Homeobox (CRX) is a master regulator of photoreceptor cell fate. Sequence variants in CRX can cause Retinitis Pigmentosa, Cone-Rod Dystrophy, and Leber Congenital Amaurosis, all inherited causes of vision loss and blindness. CRX is the only gene implicated in the pathogenesis of all three of these diseases, which present with both rod- and cone-centric phenotypes of varying age of onset and severity. Several CRX variants have been reported to cause severe dominant disease through antimorphic genetic interactions with wild-type CRX, and yet these mutations are adjacent to variants which are benign or only cause mild, recessive …