Sentence examples for been identified in inherited from inspiring English sources

In addition to nephrin, genetic mutations in components of the slit diaphragm including podocin (NPHS2), CD2-associated protein (CD2AP), and transient receptor potential cation channel 6 (TRPC6) have been identified in inherited nephrotic syndromes leading to ESRD [8] [11].

Similarly, both TGFBR1/2 mutations are homozygous and TGFBR1-S241L has been identified in inherited diseases [ 27, 28], suggesting a loss of function.

Four mutations (R120G, 464delCT, Q151X and G154S) in the αB-crystallin gene were identified in inherited myofibrillar myopathy [4], [5], [6].

Several SNCA missense mutations (for example, Glu46Lys, His50Gln, Gly51Asp and Ala30Pro) have since been identified in dominantly inherited PD [ 16]-[ 19].

Many mutations have already been identified in patients with inherited disorders with unconjugated hyperbilirubinemia, such as Crigler-Najjar syndromes and Gilbert's syndrome.

Mutations in the CACNA1A gene have been identified in autosomal dominantly inherited human neurological disorders, including spinocerebellar ataxia type 6 (SCA6), episodic ataxia 2 (Eand and familial hemiplegic migraine type 1 (FHM1) [2].

Mutations in the CACNA1A gene encoding the voltage-gated calcium channel α1A subunit have been identified in patients with autosomal dominantly inherited neurological disorders, including spinocerebellar ataxia type 6 (SCand and familial hemiplegic migraine type 1 (FHM1).

A small number of mutations have been identified in SCN2A and SCN3A in other inherited epilepsies (1, 3).

So far, 415 congenital defects have been identified in cattle, 109 of them being inherited in an autosomal recessive mode [ 1].

E-cadherin germ-line mutations have been identified in a number of families with inherited predisposition to diffuse gastric carcinomas [ 36, 37].

Considering that these homologous introns have been identified in UTC lineages, they could have been inherited by vertical inheritance from the last common ancestor of UTC algae; however, the finding that they potentially code for homing endonucleases of the LAGLIDADG or GIY-YIG families (Table 4) does not allow us to exclude the possibility that they were acquired by horizontal transfer.