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Category:All HeadlinesWorld & GeopoliticsMarkets & EconomyTech & AIPoliticsSearch results for: "Pathogenic MAX Variant in" (30 stories)

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Pathogenic MAX Variant in Bilateral Adrenal Paragangliomas: The Dilemma of Cortical-Sparing Surgery
Lead StoryCureusgeneral
Nov 25, 2025

Pathogenic MAX Variant in Bilateral Adrenal Paragangliomas: The Dilemma of Cortical-Sparing Surgery

<a href="https://news.google.com/rss/articles/CBMi0wFBVV95cUxPWS1VVjZMclJqdXNqX05ZQXpGSXpmUE9LQ2pnQ3V4NXQ2Ymh0NjRydmtYU2NWSjdYVzJ3UENPM2hVdDNrRTMwZEhKb3pSU1ZwWnZGOVV2TWdETWxhaEI1LW1UX1NKWWFZVzk2ZUVULU9IS3hpRzlqbV90ZUxGbGxxNFpzTGV0bFpOSnNIRFM1U18xQlQyTlZZbW1XeHRYNWJUdEh5anYya2ZTU0xsYWhCSGRwempCZUxuNFhVeFJkQ0I1YUV1RU9WWlBJQ2dsekxvcmVR?oc=5" target="_blank">Pathogenic MAX Variant in Bilateral Adrenal Paragangliomas: The Dilemma of Cortical-Sparing Surgery</a>  <font color="#6f6f6f">Cureus</font>

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Search Results for "Pathogenic MAX Variant in"

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29 stories displayed
New bioinformatics tools help identify pathogenic variants in the genome
Phys.orggeneral

New bioinformatics tools help identify pathogenic variants in the genome

<a href="https://news.google.com/rss/articles/CBMiigFBVV95cUxPRFItMVJQal9pSVhiR0ZOVVY0ZnBTQS1oTjRWaGFYZWZlT0ZBOHc0cjNONHh4ZnpZYnJnR3NzQUc5SHdVUTBwNEVUX3g2YVFReHR3YWZrdVhmaHhOSDFIbFh1YmJlRzV1d29NSGpaUTFvakM2dFVzRkVmSElQejZQUFpXVDM3bVB0WGc?oc=5" target="_blank">New bioinformatics tools help identify pathogenic variants in the genome</a>  <font color="#6f6f6f">Phys.org</font>

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Genetic testing in pituitary adenomas: a Pituitary Society International Consensus Statement
Naturegeneral

Genetic testing in pituitary adenomas: a Pituitary Society International Consensus Statement

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE5TX0twRjk2UEs0RGRUSXltYTFBN092cDdzMENHdFZVV2pxOTltekZEU0N2eFVod0hJbnZZc2JpZHlBU3ZtQkZjYWxnZWUxMnpEaXhDNm44aW5VRXNjd1dJ?oc=5" target="_blank">Genetic testing in pituitary adenomas: a Pituitary Society International Consensus Statement</a>  <font color="#6f6f6f">Nature</font>

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1.1 Variants Cause Hyperpolarizing Shift of Depolarization-Induced Ca
Naturegeneral

1.1 Variants Cause Hyperpolarizing Shift of Depolarization-Induced Ca

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE1pTEdqM0hFQml2bmN2SHVEVm9IczZfbzdBeDk5azREUV9mMFBqRjhsOEtvY0pxcnh5ME9iVVc1UzNyNlJWcG5YU0dnVUs3TUN1X2czbWtRbkV5c29MTzRn?oc=5" target="_blank">1.1 Variants Cause Hyperpolarizing Shift of Depolarization-Induced Ca</a>  <font color="#6f6f6f">Nature</font>

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Pathogenic variants in GBX2 cause craniofacial microsomia
ScienceDirect.comgeneral

Pathogenic variants in GBX2 cause craniofacial microsomia

<a href="https://news.google.com/rss/articles/CBMidkFVX3lxTE5ocUN5Zkl0WmNqOG5saUVISlFXY3dlakZHX2pfeDNuU09JdThLelozQXlNc19IRDBNb19USTRsZmROOUdveWgweWdINE41ZXFfb1ZyeFhrSktHNWVrYkQzUjlEMmlia0hmeWNJeFlxN2tFTHR0Ymc?oc=5" target="_blank">Pathogenic variants in GBX2 cause craniofacial microsomia</a>  <font color="#6f6f6f">ScienceDirect.com</font>

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Pathogenic variants in the autophagy-tethering factor EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activation
Natureworld

Pathogenic variants in the autophagy-tethering factor EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activation

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE5peGhsVF9uNmxCRC00ZjQ3c2pNRDdUQnpmZklMV1FnT0VOLXBISVE5RkI5aGg0cHlYOWJPOC1jMEVEckx5VElFOWRiWTh3MlFIUW41VlNHVkk0OGNjRVF3?oc=5" target="_blank">Pathogenic variants in the autophagy-tethering factor EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activation</a>  <font color="#6f6f6f">Nature</font>

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A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction
Frontiersgeneral

A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction

<a href="https://news.google.com/rss/articles/CBMioAFBVV95cUxQVlh6RVdMbVlhYXhERU5QZkljME40WF9uMEluRUNSeVg4dXVTUDR0ZHRmYmRfdEQ3US1GR1RhSVJpYjZiblBtZVFSZTZDOE9GUEZ4c3pxUXQ5X0FJM0paZjBhVnUtb1B2Y0lJdGdGM3llSEpBSmcxNU1QenJ6a19xYktNMjZMZDA3cWZIUkpxOWUyTkhHQUhCX3RXb1VKQi1k?oc=5" target="_blank">A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction</a>  <font color="#6f6f6f">Frontiers</font>

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Investigation of pathogenic germline variants in gastric cancer and development of “GasCanBase” database
Wiley Online Librarygeneral

Investigation of pathogenic germline variants in gastric cancer and development of “GasCanBase” database

<a href="https://news.google.com/rss/articles/CBMiakFVX3lxTFBSb3RnVVg1YzhOODNPYktuRFQ1MlZBWHhUdWN2N0t5bnpWNUZLT0xYY0RvTDdEZE9NVkJ4QnVGdFdFcnZQSXFhMjQ1VlhMQTNNWTJRcmgzSEVCTllFWTVlX19BOWY3QXRzOGc?oc=5" target="_blank">Investigation of pathogenic germline variants in gastric cancer and development of “GasCanBase” database</a>  <font color="#6f6f6f">Wiley Online Library</font>

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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Naturetech

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE12SE5vVFBaMVRfSDhGQkZGQVdESDNKSGJsS0l0bjFSWXVRcnA4a1FIVzAzUk03dTdvSFZFMDY3SFhlaEU3WFFvRDZaelZ3Z3dKd1BRLUExSWx4a1lqVGhZ?oc=5" target="_blank">Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function</a>  <font color="#6f6f6f">Nature</font>

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Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population
Naturetech

Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTFBycGVaNTNsZFgyYnJVZ1BmTXdOUzYzdmtVUnRjaFBSaVRQeVRzM200eDZVTGp1b2w3Zm8xWDFiZFhIVFE0YzJta1RNNE1yOG51aDRyS0xjQW5WcXlUdE5B?oc=5" target="_blank">Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population</a>  <font color="#6f6f6f">Nature</font>

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Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing
Naturegeneral

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE0ycjdPSzRVdTdmTFBtNmowZEI2bnczMXdVR0pXaGM1NUFLOXI3bVpSaEN6QW1Mcnh5OHhPWm1LbzJoWWg2RVR0QVM1dFVlLTd0MDF1c0d1djhRcWhxODdZ?oc=5" target="_blank">Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing</a>  <font color="#6f6f6f">Nature</font>

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Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients
Naturegeneral

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE1HclNRVXFjb2hvc1Azb3dYN0RHOERzOUE4VC1PWEU5RFlkd0ZseklKYU9IY3I1Wl9IQWlkQTlGajRDWlY1Wk5qZGwwblhXRXE5bVJGUFlIUC1OOHNyUy1z?oc=5" target="_blank">Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients</a>  <font color="#6f6f6f">Nature</font>

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Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19
Natureworld

Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE15OE1mdHpxQUJCeGtCTDhndWNZQWV0S0xBQUVGZll1MUFaQXFidWFvLUhJZUhiLTUyMWQxQUN6S0c2clFWYzlYQ1RWS0tiRHMxTHhGcTRrN1c5aDRWMktz?oc=5" target="_blank">Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19</a>  <font color="#6f6f6f">Nature</font>

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A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations
Naturegeneral

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE5rWHRrV1pSUVpQRFBSam1teTItTVo5VFpZb0xTTlp4emhycEJjOWgyMkg5ZzY3RFgzMkJjaG5LOUNpc0FJZXIycm5SbXJEMF93ZFE2YXFFdHN4LTFaTEM0?oc=5" target="_blank">A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations</a>  <font color="#6f6f6f">Nature</font>

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Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions
Naturegeneral

Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE82VDZncG4xMjhXYTdUX3V2SWxObVpWSjQ5VnFfcE5pdFNTY1BzNzFNSUJ5eUhmNWpkMjhQUnlmQmxYalRROWRtUFIyTW5pV3FiY3VIUGx1RGliMW0xcDh3?oc=5" target="_blank">Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions</a>  <font color="#6f6f6f">Nature</font>

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Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant—A first report
Naturegeneral

Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant—A first report

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE1Jb0pxdEd4SHI0S0drLU5uRmstUDNJNUtMNlVyS2NkaUoxNG50UTc2RnBqS1pHU3hvUnlqZThISTBBREpxblUyczJZbUFDWk5kNXBVMUVoSklXeDdhcTNn?oc=5" target="_blank">Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant—A first report</a>  <font color="#6f6f6f">Nature</font>

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Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort
Naturegeneral

Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTFBGb0dqcmh2aXJ2clJaLUw5Q3pfVU42OEZCbkZVY3NDN2J4M2lrY2J6OTZZdUFuS2FiXzRVZWpPeUR6ek1RNmVwMnpBZ3VpQUNiQ1V3b1JUb0tYZXFodF9v?oc=5" target="_blank">Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort</a>  <font color="#6f6f6f">Nature</font>

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Pathogenic mechanism of the PLS1 gene variant in hearing loss and functional validation in a zebrafish model
Natureworld

Pathogenic mechanism of the PLS1 gene variant in hearing loss and functional validation in a zebrafish model

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE40NXBNai1xVjhzWmJzYlpMNGZVcnJud1NKZWVUUUYwcHF4UHJfcnk1ZmM0TFlfZkFXRXNsYkZmMWFvNktwcGFzVkxmWUdFQzdWejktTmlpc2RyUlhKcmZz?oc=5" target="_blank">Pathogenic mechanism of the PLS1 gene variant in hearing loss and functional validation in a zebrafish model</a>  <font color="#6f6f6f">Nature</font>

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Decoding pathogenic MMP9 variants in rheumatoid arthritis using computational and molecular dynamics approaches
Naturegeneral

Decoding pathogenic MMP9 variants in rheumatoid arthritis using computational and molecular dynamics approaches

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE1NS1dSNkpuMWFoYWNrdkk4cjRscnBNWEgyemRFWG1DTDFQOXNWQzJ5b2UtaTR2d181c1hHQTNiYjdxOHlqMXZrR0F4RS16MzZTTFBXRGdYQm92NVctVl93?oc=5" target="_blank">Decoding pathogenic MMP9 variants in rheumatoid arthritis using computational and molecular dynamics approaches</a>  <font color="#6f6f6f">Nature</font>

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Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC)
Naturegeneral

Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC)

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE5Vb1ZhUmc0MlRqbG5MTl92Qi1EdllNMnNPdmRwQUNtUmttRG1qWS1uMXg4NktxMlROME8tOEF3S1RSelJ1MzEwZERYelVJVEVPUjNXS2lMaWpZZThTMm1v?oc=5" target="_blank">Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC)</a>  <font color="#6f6f6f">Nature</font>

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Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes | Communications Medicine
Natureworld

Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes | Communications Medicine

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE9BbWliYnhwQnJhNGJWd2Riakl6dXNET2ZnRy1kZzRPZG1BUVV3aVVFRndCUTg3elB0RTlrSVRwb2ZWbVVfLUJ2ZFRVZWFjMUNGLXN3MVJsbnJPTk1PZ1Bz?oc=5" target="_blank">Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes | Communications Medicine</a>  <font color="#6f6f6f">Nature</font>

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Pathogenic mitochondrial DNA mutations inhibit melanoma metastasis
Science | AAASgeneral

Pathogenic mitochondrial DNA mutations inhibit melanoma metastasis

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE5WaHhtVDJDNmVLc1N4SkN6UUdNRmdKYmJuU3NmaVNhYlVyOVU3OXlzcmxfZzJxa3pqMG4wdWNORnczRm1VcTFnLXgyYjEtY1JhajVqbWEydmNlUVNWWllF?oc=5" target="_blank">Pathogenic mitochondrial DNA mutations inhibit melanoma metastasis</a>  <font color="#6f6f6f">Science | AAAS</font>

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Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity
Naturegeneral

Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE5LcU41a0JFaGFSOEZKUVRyNFY1aENjS0dYSl9FS3M4UmRtWHRIM0xhcmhFOEVxMV9Vbkw1SzVKWmdDNUlic3hTQU5HR1kxLUpBZ1U4TEhSWFBGQlhyYjNn?oc=5" target="_blank">Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity</a>  <font color="#6f6f6f">Nature</font>

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Maximum antigen diversification in a lyme bacterial population and evolutionary strategies to overcome pathogen diversity
Naturegeneral

Maximum antigen diversification in a lyme bacterial population and evolutionary strategies to overcome pathogen diversity

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE5ockZ4R3NQbTUteUl4OHlRRlZZVWlhT3l0ZjhRbzVsZnFfTWR5QWdZems5RTRBdHppeVZaelN3Y0NYWnpUUXJzNVpqVjF5OGVYMHJIcm5yaWtfdU9BQlJn?oc=5" target="_blank">Maximum antigen diversification in a lyme bacterial population and evolutionary strategies to overcome pathogen diversity</a>  <font color="#6f6f6f">Nature</font>

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Familial Acromegaly and Bilateral Asynchronous Pheochromocytomas in a Female Patient With a MAX Mutation: A Case Report
Frontiersgeneral

Familial Acromegaly and Bilateral Asynchronous Pheochromocytomas in a Female Patient With a MAX Mutation: A Case Report

<a href="https://news.google.com/rss/articles/CBMilAFBVV95cUxPVUVzTTN2Tms2OTRvU0xLTkl6eENYdHMzbnNiLXJPa2NVQU9wN3hJc0w4Um1fR2lkeFI4MTR5WWNRSVRYaHF5UWZtSFRQN0RyMzRuQVBaanFKTVBjeXg5TlVMdFF3Y3cyQVFMc1A1VjFobUhBLXZYbTFPaGdpZGFuTzBpX2xhdl9fbV8wTDJtRjVZdjN5?oc=5" target="_blank">Familial Acromegaly and Bilateral Asynchronous Pheochromocytomas in a Female Patient With a MAX Mutation: A Case Report</a>  <font color="#6f6f6f">Frontiers</font>

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Whole genome sequencing identifies pathogenic genetic variants in Han Chinese patients with familial venous thromboembolism | Communications Biology
Natureworld

Whole genome sequencing identifies pathogenic genetic variants in Han Chinese patients with familial venous thromboembolism | Communications Biology

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE0waEJDbDhlNTd2U19qWWxtdzlhUWNacFBJdGtCVnMtcXRZallQRVRaT3BrTzN2cDJSU0hwWnZCaFQ1UDRDckhYVHZtUEpwak9pU0lQb3A3X2ZQbFNiS1gw?oc=5" target="_blank">Whole genome sequencing identifies pathogenic genetic variants in Han Chinese patients with familial venous thromboembolism | Communications Biology</a>  <font color="#6f6f6f">Nature</font>

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Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians
Natureworld

Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE9yQm0xTXZhRE1jMHBnMjRWdFBOVmpuMW1XVWI3RVktam5iSzhBT3dpSHc2NmxlQXVWZlRieGtoRzZ5QW45b205VExVR2JXNjB6NDVNc0w1V3V0bEpRR3pZ?oc=5" target="_blank">Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians</a>  <font color="#6f6f6f">Nature</font>

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Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants
Naturegeneral

Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants

<a href="https://news.google.com/rss/articles/CBMiX0FVX3lxTE5PNWl4S2xiLUNDSGZhT1JCWTFjcHJnVjJWczc0M3ZaOVE2ZXI4ZUNROEEyV0hwZlJTNlFBUTQxbnhySkxXd2pONW4wY2JFeWpXV3pCbm1zSXNxMl9IWWpr?oc=5" target="_blank">Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants</a>  <font color="#6f6f6f">Nature</font>

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Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy
American Heart Association Journalsworld

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy

<a href="https://news.google.com/rss/articles/CBMiakFVX3lxTE1EVy02b0laVGlqQVZ4am9JQ2xvTWZ5S29RSVhmQjNXTEEydDh4SnJzVzE2TmFCakY5MVQ5SVJzcVRyaGMxUUs1Rm1iRnZYY0JJMnp1Y245RnByaEdPVmtROGdORDhYaTVremc?oc=5" target="_blank">Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy</a>  <font color="#6f6f6f">American Heart Association Journals</font>

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Author Correction: Predictable and precise template-free CRISPR editing of pathogenic variants
Naturegeneral

Author Correction: Predictable and precise template-free CRISPR editing of pathogenic variants

<a href="https://news.google.com/rss/articles/CBMiXkFVX3lxTE9hU3Y1ZlhxVTdSdkt5OGM1YkxvLUYzZ0VDVklZSk4yYWI2QjQ0TUNmakhxYnZ6U3NkMjNETUxLbzRVOXRoMTFvRE4ycEMyVDNveldUSVJiYWR5czFkUlE?oc=5" target="_blank">Author Correction: Predictable and precise template-free CRISPR editing of pathogenic variants</a>  <font color="#6f6f6f">Nature</font>

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