Open Access. Powered by Scholars. Published by Universities.®

Endocrinology, Diabetes, and Metabolism Commons™

Open Access. Powered by Scholars. Published by Universities.®

2,367 Full-Text Articles 13,918 Authors 791,809 Downloads 148 Institutions

All Articles in Endocrinology, Diabetes, and Metabolism

Faceted Search

2,367 full-text articles. Page 21 of 114.

The Impact Of Diabetes Mellitus On Hiv Virologic Control: Results Of The Macs/Wihs Combined Cohort Study, Sarah C Mann, Weiqun Tong, Alison G Abraham, Frank Palella, Anjali Sharma, Phyllis C Tien, Margaret A Fischl, Samy I McFarlane, Cecile D Lahiri, Susan Koletar, Daniel Merenstein, Michelle Floris-Moore, Jordan E Lake, Elizabeth Daubert, Aubri Hickman, Todd T Brown, Jose Castillo-Mancilla 2024 The Texas Medical Center Library

The Impact Of Diabetes Mellitus On Hiv Virologic Control: Results Of The Macs/Wihs Combined Cohort Study, Sarah C Mann, Weiqun Tong, Alison G Abraham, Frank Palella, Anjali Sharma, Phyllis C Tien, Margaret A Fischl, Samy I Mcfarlane, Cecile D Lahiri, Susan Koletar, Daniel Merenstein, Michelle Floris-Moore, Jordan E Lake, Elizabeth Daubert, Aubri Hickman, Todd T Brown, Jose Castillo-Mancilla

Faculty, Staff and Student Publications

Objective: Diabetes mellitus (DM) is associated with lower antiretroviral (ART) drug exposure among persons with HIV (PWH) compared to PWH without DM. The association between DM and virologic control in PWH, however, remains unknown.

Methods: We included participants in the Multicenter AIDS Cohort Study/Women's Interagency HIV Study Combined Cohort Study (MWCCS) who had initiated ART between 1999 and 2020 and had a suppressed HIV viral load (≤200 copies/ml) within 1 year of ART initiation. We compared the frequency of incident HIV viremia (HIV-1 RNA >200 copies/ml) between adult PWH with and without DM. Poisson regression was used to examine the …


Driving Healthy Behaviors Through Social Support: The Role Of Co-Responsibility In Weight Loss And Maintenance, Melanie Knufinke-Meyfroyt, Carlo Lancia, Yentl Lodewijks, Simon Nienhuijs, Eva Deckers 2024 Philips Experience Design, Eindhoven, The Netherlands

Driving Healthy Behaviors Through Social Support: The Role Of Co-Responsibility In Weight Loss And Maintenance, Melanie Knufinke-Meyfroyt, Carlo Lancia, Yentl Lodewijks, Simon Nienhuijs, Eva Deckers

Patient Experience Journal

Objective: The effectiveness of out of hospital lifestyle interventions in healthcare is likely co-dependent on social support from involved one's. We sought to investigate the interrelationships between patient-partner Co-responsibility, Spousal Support, and Self-efficacy and the mechanisms through which they contribute to health behaviors and outcomes relevant to weight loss and maintenance. Methods: Co-responsibility, Spousal Support, self-efficacy, health outcomes and health behaviors like total weight loss, physical activity, OBESI-Q, and health satisfaction were assessed through a questionnaire among 868 individuals attempting to lose weight. Full and semi-partial correlations were used to understand the association between Co-responsibility, Spousal Support, Self-efficacy …


Sleep Architecture Changes In Diabetes., Yuanjie Mao 2024 OhioHealth

Sleep Architecture Changes In Diabetes., Yuanjie Mao

Ambulatory and Primary Care Articles

Data on the relationship between sleep architecture and diabetes are limited. However, some evidence suggests that slow-wave sleep (SWS) plays a crucial role in maintaining normal glucose homeostasis and influences insulin secretion capacity. Diabetes is often associated with reduced SWS, even in the absence of sleep-disordered breathing. Notably, selective suppression of SWS-without reducing total sleep time-can lead to significant increases in insulin resistance, decreased glucose tolerance, and a higher risk of diabetes. Given the growing interest in non-pharmacological lifestyle interventions, such as modifying sleep architecture, it is important to understand how sleep patterns differ in individuals with diabetes and whether …


Type 1 Diabetes And The Gut Microbiome: What We Know And What The Future Holds, Angela Chen, Jyotsna Chawla, Cyril Blavo 2024 Nova Southeastern University

Type 1 Diabetes And The Gut Microbiome: What We Know And What The Future Holds, Angela Chen, Jyotsna Chawla, Cyril Blavo

HCA-NSU MD Research Day

Type 1 Diabetes and the Gut Microbiome: What We Know and What the Future Holds Angela Chen, OMS-II, Dr. Kiran C. Patel College of Osteopathic Medicine Objective. This paper explores the current understanding of the relationship between type 1 diabetes (T1D) and the gut microbiome, focusing on how the gastrointestinal microbial communities may contribute to autoimmune responses associated with T1D. Background. While the exact etiology of T1D remains unclear, it is widely recognized that its development results from a complex interplay of genetic predisposition, environmental factors, and lifestyle choices. Recent research has highlighted the significant role of the gut microbiome …


Observing The Impacts Of Different Diets On Clinical Outcomes In Patients With Alzheimer's Disease: A Scoping Review, Erjola Toska, Alessandra Ottley, Quinn Jackson, Rachel Fricker, Alexa Carleo, Gabriella Cutrali, Olivia D’Alessio, Raquel Rossman, Samuel Kruchakov, Abraham Edelstein, Lubov Nathanson 2024 Nova Southeastern University

Observing The Impacts Of Different Diets On Clinical Outcomes In Patients With Alzheimer's Disease: A Scoping Review, Erjola Toska, Alessandra Ottley, Quinn Jackson, Rachel Fricker, Alexa Carleo, Gabriella Cutrali, Olivia D’Alessio, Raquel Rossman, Samuel Kruchakov, Abraham Edelstein, Lubov Nathanson

HCA-NSU MD Research Day

Observing the Impacts of Different Diets on Clinical Outcomes in patients with Alzheimer's disease: A Scoping Review Authors: Quinn Jackson, OMS-III; Rachel Fricker,OMS-III; Erjola Toska, OMS-III; Alessandra Ottley,OMS-III; Alexa Carleo,OMS-III; Gabriella Cutrali, OMS-III; Olivia D’Alessio, OMS-III; Raquel Rossman, OMS-III; Samuel Kruchakov, OMS-III; Abraham Edelstein,OMS-III; Lubov Nathanson, Ph.D. Program: Nova Southeastern University Dr. Kiran C. Patel College of Osteopathic Medicine, Florida Objectives: This study aimed to assess the literature published from 2013 to 2023 on the impact of diet on Alzheimer’s Disease (AD). Background: AD is primarily marked by β-amyloid plaques and neurofibrillary tangles, which impair neuronal synapses, leading to memory …


Evaluating Tirzepatide's Therapeutic Potential In Mitigating Obesity-Associated Comorbidities, Zaneh Kahook, Talaya Jones, Carina Bryan, Mayur Parmar 2024 Nova Southeastern University

Evaluating Tirzepatide's Therapeutic Potential In Mitigating Obesity-Associated Comorbidities, Zaneh Kahook, Talaya Jones, Carina Bryan, Mayur Parmar

HCA-NSU MD Research Day

Objective: The study aims to explore the therapeutic potential of dual GIP/GLP-1 agonist tirzepatide in managing obesity and its associated manifestations, including obstructive sleep apnea (OSA), hidradenitis suppurativa (HS), and obesity-associated cancer (OAC) risks. Background: OSA and HS are the associated comorbidities noted in persons with obesity. Obesity has been associated with an increased risk of cancers, such as breast cancer. Reducing obesity could improve these conditions. Tirzepatide has demonstrated efficacy in reducing body weight, but its benefits in obesity-related conditions and cancer risk need further investigation. Methods: Data was synthesized from peer-reviewed literature on tirzepatide. Additional sources were identified …


Be Suspicious Of Supplements: A Case Of Exogenous Cushing Syndrome From Hidden Ingredient, Brittany Puebla, Leidy Huie Martinez MD, Carlos Correa MD, Jose Melendez MD, Gerald Chang, Roberto Ruiz MD 2024 HCA Healthcare

Be Suspicious Of Supplements: A Case Of Exogenous Cushing Syndrome From Hidden Ingredient, Brittany Puebla, Leidy Huie Martinez Md, Carlos Correa Md, Jose Melendez Md, Gerald Chang, Roberto Ruiz Md

HCA-NSU MD Research Day

Introduction: Cushing syndrome, resulting from hypercortisolism, can be caused by both exogenous glucocorticoid use and endogenous production. While exogenous Cushing Syndrome is usually associated with known glucocorticoid exposure, the risk of occult use through over-the-counter (OTC) supplements is a growing concern. Case Presentation: 60-year-old male presented to the ED with worsening dyspnea, bilateral lower extremity swelling, and intermittent chest pain. He was admitted for suspected congestive heart failure (CHF) exacerbation. Medical history includes obesity, hypertension, diabetes, and CHF. On day 2, a Cushinoid appearance was noted on physical exam with BLE muscle wasting, round faces, and prominent central obesity with …


The Complex Relationship Between Tuberculosis And Hyperglycemia, Michelle Byers, Elizabeth Guy 2024 The Texas Medical Center Library

The Complex Relationship Between Tuberculosis And Hyperglycemia, Michelle Byers, Elizabeth Guy

Faculty, Staff and Students Publications

Hyperglycemia and tuberculosis are dual global pandemics. Each has a propulsive and amplifying effect on the other, and, because of this, we must consider hyperglycemia and tuberculosis together. Hyperglycemia is immunosuppressive and increases the risk of tuberculosis by threefold. It also leads to a more advanced presentation of pulmonary tuberculosis, thus increasing the likelihood of being smear positive and having cavitating lesions, and it impacts the duration and outcomes of treatment, with an increased one year mortality seen in patients with tuberculosis and diabetes. Additionally, any degree of hyperglycemia can have an impact on susceptibility to tuberculosis, and this effect …


Ephb4-Rasa1 Inhibition Of Piezo1 Ras Activation Drives Lymphatic Valvulogenesis, Di Chen, Yipei Tang, Philip E Lapinski, David Wiggins, Eva M Sevick, Michael J Davis, Philip D King 2024 The Texas Medical Center Library

Ephb4-Rasa1 Inhibition Of Piezo1 Ras Activation Drives Lymphatic Valvulogenesis, Di Chen, Yipei Tang, Philip E Lapinski, David Wiggins, Eva M Sevick, Michael J Davis, Philip D King

Faculty, Staff and Student Publications

BACKGROUND: EPHB4 (ephrin receptor B4) and the RASA1 (p120 Ras GTPase-activating protein) are necessary for the development of lymphatic vessel (LV) valves. However, precisely how EPHB4 and RASA1 regulate LV valve development is unknown. In this study, we examine the mechanisms by which EPHB4 and RASA1 regulate the development of LV valves.

METHODS: We used LV-specific inducible EPHB4-deficient mice and EPHB4 knockin mice that express a form of EPHB4 that is unable to bind RASA1 yet retains protein tyrosine kinase activity (EPHB4 2YP) to study the role of EPHB4 and RASA1 in LV valve development in the embryo and LV …


Cutaneous Adverse Effects From Diabetes Devices In Pediatric Patients With Type 1 Diabetes Mellitus: Systematic Review, Alicia Podwojniak, Joseph Flemming, Isabella J Tan, Hira Ghani, Zachary Neubauer, Anne Jones 2024 Rowan University

Cutaneous Adverse Effects From Diabetes Devices In Pediatric Patients With Type 1 Diabetes Mellitus: Systematic Review, Alicia Podwojniak, Joseph Flemming, Isabella J Tan, Hira Ghani, Zachary Neubauer, Anne Jones

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Continuous glucose monitoring (CGM) and continuous subcutaneous insulin infusions (CSIIs) are the current standard treatment devices for type 1 diabetes (T1D) management. With a high prevalence of T1D beginning in pediatrics and carrying into adulthood, insufficient glycemic control leads to poor patient outcomes. Dermatologic complications such as contact dermatitis, lipodystrophies, and inflammatory lesions are among those associated with CGM and CSII, which reduce glycemic control and patient compliance.

OBJECTIVE: This systematic review aims to explore the current literature surrounding dermatologic complications of CGM and CSII as well as the impact on patient outcomes.

METHODS: A systematic review of the …


Identification Of Atypical Pediatric Diabetes Mellitus Cases Using Electronic Medical Records, Marcela F Astudillo, William E Winter, Liana K Billings, Raymond Kreienkamp, Ashok Balasubramanyam, Maria J Redondo, Mustafa Tosur 2024 The Texas Medical Center Library

Identification Of Atypical Pediatric Diabetes Mellitus Cases Using Electronic Medical Records, Marcela F Astudillo, William E Winter, Liana K Billings, Raymond Kreienkamp, Ashok Balasubramanyam, Maria J Redondo, Mustafa Tosur

Faculty, Staff and Students Publications

INTRODUCTION: There are no established methods to identify children with atypical diabetes for further study. We aimed to develop strategies to systematically ascertain cases of atypical pediatric diabetes using electronic medical records (EMR).

RESEARCH DESIGN AND METHODS: We tested two strategies in a large pediatric hospital in the USA. Strategy 1: we designed a questionnaire to rule out typical diabetes and applied it to the EMR of 100 youth with diabetes. Strategy 2: we built three electronic queries to generate reports of three atypical pediatric diabetes phenotypes: unknown type, type 2 diabetes (T2D) diagnosed(AbNegT1D).

RESULTS: Strategy 1 identified six cases …


Impact Of Gut Microbiota And Its Metabolites On Immunometabolism In Colorectal Cancer, Madison Flory, Paloma Bravo, Asfaqul Alam 2024 University of Kentucky

Impact Of Gut Microbiota And Its Metabolites On Immunometabolism In Colorectal Cancer, Madison Flory, Paloma Bravo, Asfaqul Alam

Markey Cancer Center Faculty Publications

Colorectal cancer (CRC) is highly prevalent, accounting for approximately one-tenth of cancer cases and deaths globally. It stands as the second most deadly and third most common cancer type. Although the gut microbiota has been implicated in CRC carcinogenesis for the last several decades, it remains one of the least understood risk factors for CRC development, as the gut microbiota is highly diverse and variable. Many studies have uncovered unique microbial signatures in CRC patients compared with healthy matched controls, with variations dependent on patient age, disease stage, and location. In addition, mechanistic studies revealed that tumor-associated bacteria produce diverse …


Fetal Sex Effects On Maternal Health Can Now Be Tested Via Randomization: A First-In-Class Illustration In Cows On Glucoregulatory Outcomes, Aridany Suarez-Trujillo, Colby J Vorland, Griffin T Nicholls, Daniella E Chusyd, Chelsie Parker, Lilian Golzarri-Arroyo, Sophia Swann, Bethany J Funnell, Kara R Stewart, David B Allison 2024 The Texas Medical Center Library

Fetal Sex Effects On Maternal Health Can Now Be Tested Via Randomization: A First-In-Class Illustration In Cows On Glucoregulatory Outcomes, Aridany Suarez-Trujillo, Colby J Vorland, Griffin T Nicholls, Daniella E Chusyd, Chelsie Parker, Lilian Golzarri-Arroyo, Sophia Swann, Bethany J Funnell, Kara R Stewart, David B Allison

Children’s Nutrition Research Center Staff Publications

Background: The maternal-offspring relationship, such as whether fetal sex influences maternal health, is essential to explore to advance prenatal and maternal health. While associations exist between fetal sex and maternal health outcomes, it is unclear whether these reflect a causal relationship.

Objective: To demonstrate that fetal sex can be randomly assigned to test the causal effect of fetal sex on maternal outcomes.

Methods: Holstein dairy cows were stratified and randomized using sealed opaque envelopes to be artificially inseminated with either X- or Y-sorted bull semen until 40 cows became pregnant. Monthly body weight measurements were recorded, and an intravenous glucose …


Avulsion Of The Flexor Digitorum Profundus Tendon During The Curettage Of A Recurrent Enchondroma: A Case Report, Shunpei Hama, Masataka Yasuda, Makoto Fukuda, Katsuaki Onishi, Takaaki Chikugo 2024 The Texas Medical Center Library

Avulsion Of The Flexor Digitorum Profundus Tendon During The Curettage Of A Recurrent Enchondroma: A Case Report, Shunpei Hama, Masataka Yasuda, Makoto Fukuda, Katsuaki Onishi, Takaaki Chikugo

Children’s Nutrition Research Center Staff Publications

Enchondroma rarely occurs in the distal phalanx, and avulsion of the flexor digitorum profundus (FDP) tendon in this area is also rare. We report a case of recurrent enchondroma in the distal phalanx, which required reconstruction for an accidental FDP avulsion during surgery. A 36-year-old right-handed woman visited our hospital with a suspected recurrence of enchondroma and a planned surgery. Radiographs and computed tomography revealed three translucent lesions in the distal phalanx of her left index finger. We performed curettage and calcium phosphate bone cement (CPC) grafting. During the procedure, an avulsion of the FDP tendon was found. We reattached …


First Interim Results From Fine-Real: A Prospective, Non-Interventional, Phase 4 Study Providing Insights Into The Use And Safety Of Finerenone In A Routine Clinical Settingfirst Interim Results From Fine-Real: A Prospective, Non-Interventional, Phase 4 Study Providing Insights Into The Use And Safety Of Finerenone In A Routine Clinical Setting, Susanne B Nicholas, Ricardo Correa-Rotter, Nihar R Desai, Lixin Guo, Sankar D Navaneethan, Kevin M Pantalone, Christoph Wanner, Stefanie Hamacher, Samuel T Fatoba, Andrea Horvat-Broecker, Antonio Garreta-Rufas, Alain Gay, Martin Merz, David C Wheeler 2024 The Texas Medical Center Library

First Interim Results From Fine-Real: A Prospective, Non-Interventional, Phase 4 Study Providing Insights Into The Use And Safety Of Finerenone In A Routine Clinical Settingfirst Interim Results From Fine-Real: A Prospective, Non-Interventional, Phase 4 Study Providing Insights Into The Use And Safety Of Finerenone In A Routine Clinical Setting, Susanne B Nicholas, Ricardo Correa-Rotter, Nihar R Desai, Lixin Guo, Sankar D Navaneethan, Kevin M Pantalone, Christoph Wanner, Stefanie Hamacher, Samuel T Fatoba, Andrea Horvat-Broecker, Antonio Garreta-Rufas, Alain Gay, Martin Merz, David C Wheeler

Center for Medical Ethics and Health Policy Staff Publications

Background: Finerenone, a selective non-steroidal mineralocorticoid receptor antagonist, improves kidney and cardiovascular outcomes in patients with chronic kidney disease (CKD) associated with type 2 diabetes (T2D). The FINE-REAL study (NCT05348733) aims to evaluate the characteristics and treatment patterns of participants treated with finerenone in clinical practice.

Methods: FINE-REAL is a prospective, single-arm, non-interventional study of patients initiated on finerenone as part of their routine care in accordance with country-approved labels. The study, initiated in June 2022, is expected to be completed by January 2028. The cutoff for this pre-specified interim analysis was June 13, 2023.

Results: Participants were …


Trends And Disparities In Coronary Artery Disease And Obesity-Related Mortality In The United States From 1999-2022, Mushood Ahmed, Hira Javaid, Aimen Shafiq, Zain Ali Nadeem, Areeba Ahsan, Abdullah Nofal, Raheel Ahmed, Mahboob Alam, Marat Fudim, Gregg C Fonarow, Mamas A Mamas 2024 The Texas Medical Center Library

Trends And Disparities In Coronary Artery Disease And Obesity-Related Mortality In The United States From 1999-2022, Mushood Ahmed, Hira Javaid, Aimen Shafiq, Zain Ali Nadeem, Areeba Ahsan, Abdullah Nofal, Raheel Ahmed, Mahboob Alam, Marat Fudim, Gregg C Fonarow, Mamas A Mamas

Faculty, Staff and Students Publications

BACKGROUND: Almost half of the US adult population has obesity, which predisposes to atherosclerosis and can lead to poor prognosis in coronary artery disease (CAD). We aim to identify CAD and obesity-related mortality trends among adults in the United States stratified by age, sex, race and geographical location.

METHODS: The CDC-WONDER database was used to extract death certificate data for adults aged ≥ 25 years. Crude mortality rates (CMR) and age-adjusted mortality rates (AAMRs) per 100,000 persons were calculated, and temporal trends were described by calculating annual percent change (APC) and the average APC (AAPC) in the rates using Joinpoint …


Metabolites Link Intake Of A Healthy Diet To Better Insulin And Glucose Homeostasis In The Microbiome And Insulin Longitudinal Evaluation Study (Miles), Alexis C Wood, Danielle J Lee, Patricia A Sheridan, Elizabeth T Jensen, Gautam Ramesh, Alain G Bertoni, Stephen S Rich, Yii-Der I Chen, David M Herrington, Jerome I Rotter, Mark O Goodarzi 2024 The Texas Medical Center Library

Metabolites Link Intake Of A Healthy Diet To Better Insulin And Glucose Homeostasis In The Microbiome And Insulin Longitudinal Evaluation Study (Miles), Alexis C Wood, Danielle J Lee, Patricia A Sheridan, Elizabeth T Jensen, Gautam Ramesh, Alain G Bertoni, Stephen S Rich, Yii-Der I Chen, David M Herrington, Jerome I Rotter, Mark O Goodarzi

Faculty, Staff and Students Publications

BACKGROUND: Dietary quality has been linked to better glycemic control, but the precise molecular mechanisms giving rise to these associations are not fully understood.

OBJECTIVES: To examine the association of metabolites associated with the intake of a healthy diet with measures of insulin/glucose homeostasis.

METHODS: Using cross-sectional data from 295 United States adults, the associations between 3 diet pattern scores and metabolome-wide metabolites were estimated via linear regression models, which controlled for demographic factors and health behaviors. Subsequently, the associations between the diet-related metabolites with 6 measures of glucose/insulin homeostasis were examined in similar models. A Bonferroni correction was applied …


Transcriptomic And Epigenomic Signatures Distinguish High- And Low-Risk Endotypes For Liver Tumor Development, Sandra L Grimm, Tia Talley, Rahul K Jangid, Amrit Koirala, Micah B Castillo, Preethi H Gunaratne, Cristian Coarfa, Cheryl L Walker 2024 The Texas Medical Center Library

Transcriptomic And Epigenomic Signatures Distinguish High- And Low-Risk Endotypes For Liver Tumor Development, Sandra L Grimm, Tia Talley, Rahul K Jangid, Amrit Koirala, Micah B Castillo, Preethi H Gunaratne, Cristian Coarfa, Cheryl L Walker

Faculty, Staff and Students Publications

The epigenome is a target for environmental exposures and a potential determinant of inter-individual differences in response. In genetically identical C57Bl/6 mice exposed from gestation to weaning to the endocrine-disrupting chemical (EDC) tributyltin (TBT), hepatic tumor development later in life varied across multiple cohorts over time and depending on sex and diet. In one cohort where approximately half of TBT-exposed male mice developed liver tumors at 10 months (Katz et al. Hepatic tumor formation in adult mice developmentally exposed to organotin, Environmental Health Perspectives, 128 (1), 17010, 2020), transcriptomic (RNA-seq) and epigenomic (ChIP-seq) profiling was performed on blood and liver …


Cohort Expansion And Genotype-Phenotype Analysis Of Rab11a-Associated Neurodevelopmental Disorder, Maria Carla Borroto, Heena Patel, Siddharth Srivastava, Lindsay C Swanson, Boris Keren, Sandra Whalen, Cyril Mignot, Xiaodong Wang, Qian Chen, Jill A Rosenfeld, Scott McLean, Rebecca O Littlejohn, Undiagnosed Diseases Network, Lisa Emrick, Lindsay C Burrage, Ruben Attali, Gaetan Lesca, Cecile Acquaviva-Bourdain, Catherine Sarret, Laurie H Seaver, Konrad Platzer, Tobias Bartolomaeus, Cornelia Wünsch, Susann Fischer, Ana Maria Rodriguez Barreto, Jorge L Granadillo, Elisabeth Schreiner, Theresa Brunet, Ulrich A Schatz, Isabelle Thiffault, Sureni V Mullegama, Jacques L Michaud, Fadi F Hamdan, Elsa Rossignol, Philippe M Campeau 2024 The Texas Medical Center Library

Cohort Expansion And Genotype-Phenotype Analysis Of Rab11a-Associated Neurodevelopmental Disorder, Maria Carla Borroto, Heena Patel, Siddharth Srivastava, Lindsay C Swanson, Boris Keren, Sandra Whalen, Cyril Mignot, Xiaodong Wang, Qian Chen, Jill A Rosenfeld, Scott Mclean, Rebecca O Littlejohn, Undiagnosed Diseases Network, Lisa Emrick, Lindsay C Burrage, Ruben Attali, Gaetan Lesca, Cecile Acquaviva-Bourdain, Catherine Sarret, Laurie H Seaver, Konrad Platzer, Tobias Bartolomaeus, Cornelia Wünsch, Susann Fischer, Ana Maria Rodriguez Barreto, Jorge L Granadillo, Elisabeth Schreiner, Theresa Brunet, Ulrich A Schatz, Isabelle Thiffault, Sureni V Mullegama, Jacques L Michaud, Fadi F Hamdan, Elsa Rossignol, Philippe M Campeau

Faculty, Staff and Students Publications

Background: GTPases of the Rab family are important orchestrators of membrane trafficking, and their dysregulation has been linked to a variety of neuropathologies. In 2017, we established a causal link between RAB11A variants and developmental and epileptic encephalopathy. In this study, we expand the phenotype of RAB11A-associated neurodevelopmental disorder and explore genotype-phenotype correlations.

Methods: We assessed 16 patients with pathogenic or likely pathogenic RAB11A variants, generally de novo, heterozygous missense variants. One individual had a homozygous nonsense variant, although concomitant with a pathogenic LAMA2 variant, which made their respective contributions to the phenotype difficult to discriminate.

Results: We reinforce the …


Biallelic Loss-Of-Function Variants In Ubap1l And Nonsyndromic Retinal Dystrophies, Ehsan Ullah, Siying Lin, Jiaxiong Lu, Chelsea Bender, Andrew R Webster, Samantha Malka, Savita Madhusudhan, Emma Rees, Denise Williams, Aime R Agather, Catherine A Cukras, Robert B Hufnagel, Rui Chen, Laryssa A Huryn, Gavin Arno, Bin Guan 2024 The Texas Medical Center Library

Biallelic Loss-Of-Function Variants In Ubap1l And Nonsyndromic Retinal Dystrophies, Ehsan Ullah, Siying Lin, Jiaxiong Lu, Chelsea Bender, Andrew R Webster, Samantha Malka, Savita Madhusudhan, Emma Rees, Denise Williams, Aime R Agather, Catherine A Cukras, Robert B Hufnagel, Rui Chen, Laryssa A Huryn, Gavin Arno, Bin Guan

Faculty, Staff and Students Publications

Importance: Inherited retinal dystrophies (IRDs) present a challenge in clinical diagnostics due to their pronounced genetic heterogeneity. Despite advances in next-generation sequencing (NGS) technologies, a substantial portion of the genetic basis underlying IRDs remains elusive. Addressing this gap seems important for gaining insights into the genetic landscape of IRDs, which may help improve diagnosis and prognosis and develop targeted therapies in the future.

Objective: To provide a clinical and molecular characterization of 6 patients with IRDs with biallelic disease-causing variants in a novel candidate IRD disease gene.

Design, setting, and participants: This multicenter case series study included 6 patients with …


Digital Commons powered by bepress