Search Results - "Anand, Anuranjan"

Mutations in OTOF, CLDN14 & SLC26A4 genes as major causes of hearing impairment in Dhadkai village, Jammu & Kashmir, India by Pandey, Nishtha, Rashid, Tabassum, Jalvi, Rajeev, Sharma, Meenakshi, Rangasayee, Raghunath, Andrabi, Khurshid, Anand, Anuranjan

“…Background & objectives: A high incidence of hearing impairment is reported from the village of Dhadkai in the State of Jammu and Kashmir, India. Prevalence of…”
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A linkage and exome study implicates rare variants of KANK4 and CAP2 in bipolar disorder in a multiplex family by Anjanappa, Ram M., Nayak, Sourav, Moily, Nagaraj S., Manduva, Vallikiran, Nadella, Ravi K., Viswanath, Biju, Reddy, Yemmiganur C. J., Jain, Sanjeev, Anand, Anuranjan

“…Objectives Bipolar disorder (BD) is a neuropsychiatric disorder with a complex pattern of inheritance. Although many genetic studies have been conducted on BD,…”
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A genetic locus for sensory epilepsy precipitated by contact with hot water maps to chromosome 9p24.3-p23 by Karan, Kalpita R., Satishchandra, Parthasarthy, Sinha, Sanjib, Anand, Anuranjan

“…Hot water epilepsy (HWE) is a rare form of sensory epilepsy where seizures are precipitated by a stimulus of contact with hot water. While earlier studies have…”
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Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE by Ganapathy, Aparna, Pandey, Nishtha, Srisailapathy, C R Srikumari, Jalvi, Rajeev, Malhotra, Vikas, Venkatappa, Mohan, Chatterjee, Arunima, Sharma, Meenakshi, Santhanam, Rekha, Chadha, Shelly, Ramesh, Arabandi, Agarwal, Arun K, Rangasayee, Raghunath R, Anand, Anuranjan

“…Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary hearing loss. To study the contribution of these genes to…”
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Identification of a novel homozygous mutation in transmembrane channel like 1 ( TMC1 ) gene, one of the second-tier hearing loss genes after GJB2 in India by Singh, Pawan Kumar, Ghosh, Manju, Sharma, Shipra, Shastri, Shivaram, Gupta, Neerja, Chowdhury, Madhumita Roy, Anand, Anuranjan, Kabra, Madhulika

“…Hearing impairment is a common and heterogeneous sensory disorder in humans. Among about 90 genes, which are known to be associated with hearing impairment,…”
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An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene by Kapoor, Ashish, Satishchandra, Parthasarathy, Ratnapriya, Rinki, Reddy, Ramesh, Kadandale, Jayaram, Shankar, Susarla K., Anand, Anuranjan

“…Objective To identify the disease locus in a three‐generation south Indian family having several of its members affected with idiopathic epilepsy. Methods…”
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A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy by Cavalleri, Gianpiero L., Walley, Nicole M., Soranzo, Nicole, Mulley, John, Doherty, Colin P., Kapoor, Ashish, Depondt, Chantal, Lynch, John M., Scheffer, Ingrid E., Heils, Armin, Gehrmann, Anne, Kinirons, Peter, Gandhi, Sonia, Satishchandra, Parthasarathy, Wood, Nicholas W., Anand, Anuranjan, Sander, Thomas, Berkovic, Samuel F., Delanty, Norman, Goldstein, David B., Sisodiya, Sanjay M.

“…Purpose: Although complex idiopathic generalized epilepsies (IGEs) are recognized to have a significant genetic component, as yet there are no known common…”
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Control of Male Sexual Behavior and Sexual Orientation in Drosophila by the fruitless Gene by Ryner, Lisa C, Goodwin, Stephen F, Castrillon, Diego H, Anand, Anuranjan, Villella, Adriana, Baker, Bruce S, Hall, Jeffrey C, Taylor, Barbara J, Wasserman, Steven A

“…Sexual orientation and courtship behavior in Drosophila are regulated by fruitless (fru), the first gene in a branch of the sex-determination hierarchy…”
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A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12-q14 by KAPOOR, Ashish, RATNAPRIYA, R, KURUTTUKULAM, Gigy, ANAND, Anuranjan

“…Juvenile myoclonic epilepsy is a clinically well-defined, age-related common idiopathic generalized epilepsy syndrome with substantial genetic basis to its…”
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Molecular Genetic Dissection of the Sex-Specific and Vital Functions of the Drosophila melanogaster Sex Determination Gene fruitless by Anand, Anuranjan, Villella, Adriana, Ryner, Lisa C, Carlo, Troy, Goodwin, Stephen F, Song, Ho-Juhn, Gailey, Donald A, Morales, Ana, Hall, Jeffrey C, Baker, Bruce S, Taylor, Barbara J

“…A multibranched hierarchy of regulatory genes controls all aspects of somatic sexual development in Drosophila melanogaster. One branch of this hierarchy is…”
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Sex determining signal inDrosophila melanogaster by Anand, Anuranjan

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Rare SLC1A1 variants in hot water epilepsy by Karan, Kalpita Rashimi, Satishchandra, P., Sinha, Sanjib, Anand, Anuranjan

“…Hot water epilepsy is sensory epilepsy, wherein seizures are triggered by an unusual stimulus: contact with hot water. Although genetic factors contribute to…”
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Microtubule‐associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy by Raju, Praveen K, Satishchandra, Parthasarathy, Nayak, Sourav, Iyer, Vishwanathan, Sinha, Sanjib, Anand, Anuranjan

“…Juvenile myoclonic epilepsy (JME) is a common form of epilepsy with a substantial genetic basis to its etiology. While earlier studies have identified EFHC1 as…”
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Exome sequencing and functional analyses revealed CETN1 variants leads to impaired cell division and male fertility by Sudhakar, Digumarthi V S, Phanindranath, Regur, Jaishankar, Shveta, Ramani, Anand, Kalamkar, Kaustubh P, Kumar, Umesh, Pawar, Asmita D, Dada, Rima, Singh, Rajender, Gupta, Nalini J, Deenadayal, Mamata, Tolani, Aarti Deenadayal, Sharma, Yogendra, Anand, Anuranjan, Gopalakrishnan, Jay, Thangaraj, Kumarasamy

“…Human spermatogenesis requires an orchestrated expression of numerous genes in various germ cell subtypes. Therefore, the genetic landscape of male infertility…”
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Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy: RAJU et al by Raju, Praveen K, Satishchandra, Parthasarathy, Nayak, Sourav, Iyer, Vishwanathan, Sinha, Sanjib, Anand, Anuranjan

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Familial autosomal dominant reflex epilepsy triggered by hot water maps to 4q24-q28 by Ratnapriya, Rinki, Satishchandra, Parthasarthy, Dilip, S, Gadre, Girish, Anand, Anuranjan

“…Hot water epilepsy is a reflex or sensory epilepsy in which seizures are triggered by the stimulus of bathing in hot water. Although there is evidence of a…”
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Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma: Cx30 Mutation for Syndromic Hearing Loss by Pandey, Nishtha, Xavier, Dennis F., Chatterjee, Arunima, Mani, Ram-Shankar, Hiremagalore, Ravi, Tharakan, Ajith, Rajashekhar, B., Anand, Anuranjan

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locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21.3-q22.3 by Ratnapriya, Rinki, Satishchandra, Parthasarthy, Kumar, S. Dilip, Gadre, Girish, Reddy, Ramesh, Anand, Anuranjan

“…Hot water epilepsy (HWE) is a form of reflex or sensory epilepsy wherein seizures are precipitated by an unusual stimulus, the contact of hot water over the…”
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Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss by RAM SHANKAR MANI, GANAPATHY, Aparna, JALVI, Rajeev, SRIKUMARI SRISAILAPATHY, C. R, MALHOTRA, Vikas, CHADHA, Shelly, AGARWAL, Arun, RAMESH, Arabandi, RAGHUNATH RAO RANGASAYEE, ANAND, Anuranjan

“…In a study of 530 individuals with non-syndromic, sensorineural hearing loss, we identified 18 mutations at connexin 26 (Cx26), four of which are novel…”
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Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma by Pandey, Nishtha, Xavier, Dennis F., Chatterjee, Arunima, Mani, Ram‐Shankar, Hiremagalore, Ravi, Tharakan, Ajith, Rajashekhar, B., Anand, Anuranjan

“…Summary Mutations in the gap‐junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss. Here, we report our findings on a large multigeneration…”
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